The Equal Employment Opportunity Commission (EEOC) issued a statement that it had filed a lawsuit against Fabricut, Inc. on May 7, 2013 in the U.S. District Court for the Northern District of Oklahoma, making it the first lawsuit brought by the agency to enforce genetic nondiscrimination rights afforded by Title II of the Genetic Information Nondiscrimination Act of 2008 (GINA). A consent decree was filed concurrently, thereby settling the lawsuit on the same day.

Facts of the Case and Details of the Settlement (as reported by the EEOC statement). Rhonda Jones had been working as a temporary memo clerk for Fabricut, Inc. When her temporary employment was nearing an end, she applied for a permanent position with the company. Fabricut, Inc. initially offered her the position but then ran afoul of GINA Title II when, as part of its pre-employment medical examination, it allegedly requested family history on a variety of specific conditions. As previous GLR coverage has discussed, GINA defines “genetic information” broadly to include family medical history. On the basis of the information provided during the pre-employment medical examination, Fabricut allegedly required Jones to obtain additional testing to rule out carpal tunnel syndrome (CTS). While subsequent testing did rule out CTS and Jones provided that information to Fabricut, Fabricut allegedly rescinded the job offer on the basis of the pre-employment medical examination and its view that she had CTS.

As part of the consent decree settling the case, Fabricut agreed to pay $50,000 in damages. The company also agreed to undertake corrective actions that include posting a non-discrimination notice to employees. GINA requires that employers post a non-discrimination notice, and “Equal Employment Opportunity is the Law” posters are readily available on the EEOC website. Fabricut also agreed to have its employees responsible for hiring decisions undergo non-discrimination training and further agreed to distribute non-discrimination policies to its employees.

Significance of the Case. Although individuals have brought complaints against employers alleging GINA violations, this is the first lawsuit initiated by the EEOC to enforce GINA. The EEOC, charged with enforcement of the employment protections of Title II of GINA, provides a summary of the intake and resolution of GINA complaints brought to the agency’s attention. (Similar data have been provided online by the Department of Health and Human Services’ Office of Civil Rights (OCR), the agency charged with enforcement of the health insurance protections of GINA Title I; however, no enforcement data have yet been posted for fiscal year 2012, with the limited exception of press releases to highlight resolution agreements for selected cases.) For previous GLR coverage of GINA Title II, see here and here.

The Fabricut case is a reminder of cases that led to GINA’s eventual passage, including EEOC v. Burlington Northern and Sante Fe Railway Company, 2002 WL 32155386, which also involved employer interest in carpal tunnel syndrome information from employees. Together, these cases highlight the close connection between conduct prohibited under GINA and conduct prohibited under the Americans with Disabilities Act of 1990 as amended (42 U.S.C. §12101 et seq., Pub. L. 101-336). GINA Title II prohibits both the acquisition and the use of genetic information in employment contexts. The ADA prohibits employment discrimination on the basis of disability, but defines disability broadly to include “(a) a physical or mental impairment that substantially limits one or more of the major life activities of such individual; (b) a record of such an impairment; or (c) being regarded as having such an impairment.” (42 U.S.C. §12102(2)). This third definition (an inherently subjective determination), when combined with widely-held views of genetic determinism, widespread genetic illiteracy, and the breadth of GINA’s statutory definition of “genetic information”, ensures that GINA Title II and ADA claims will be brought concurrently when individuals believe themselves to be the victims of genetic discrimination in employment contexts.

Importantly, GINA Title II regulations provide “Safe Harbor” language (see 29 CFR 1635.8(b)(1)(i)(B)) that can help employers to avoid the trap of an unlawful acquisition of genetic information during the hiring process. Use of the “Safe Harbor” language means that any genetic information (e.g., family medical history) disclosed to the employer will be deemed an “inadvertent” discovery rather than an unlawful request for and acquisition of genetic information. However, the safe harbor language provides no defense for the employer that subsequently tries to use any genetic information in its employment decisions. As a reminder, GINA regulations do not provide employers with a bona fide occupational qualification (BFOQ) defense for use of genetic information (again, including family medical history) in reaching an employment decision.

Data are currently unavailable regarding the level of GINA awareness specifically among employers and those medical practitioners engaged in pre-employment (sometimes called “fitness for duty”) examinations. Available empirical data of GINA awareness among physicians (Laedtke et al. 2012) and consumers (Allain, Friedman, and Senter, 2012), as well as public knowledge and awareness of genetics (e.g., Haga et al. 2013) collectively suggest that substantial educational efforts (e.g., from public service announcements to formal education initiatives) may be needed before GINA, a largely symbolic law, is to have any meaningful impact. The Fabricut case suggests that the EEOC may have decided that filing this lawsuit – even when filing the settlement concurrently – may be a useful approach to spread the word.

When it took the case (granting certiorari), the Supreme Court agreed to hear only a single straightforward question: “Are human genes patentable?” In other words, is it possible to patent human genes as human-made inventions, or are they simply unpatentable products of nature? The Court thus let stand the Federal Circuit’s split decision on Myriad’s methods.

Two more pieces of background before I get to my reactions to the oral arguments. First, the case is only about whether genes are patentable subject matter; that is, are they the kinds of things that are eligible for patent protection under section 101 of the Patent Act, assuming that all other requirements for patentability are met. Even if the Supreme Court rules in favor of gene patents here, every gene patent would still have to pass the tests of novelty (section 102) and nonobviousness (section 103), and to be the subject of an adequately explicit written description (section 112).

The second background point is a reminder of the distinction between product patents and method patents. Product patents claim things—machines, manufactures, and compositions of matter, in Patent Act terms. To draw on some recent and historical Supreme Court cases, a patentable product can be a plow, a chemical, a drug, an automobile brake assembly, a bacterial species, and maybe a gene. When you patent a product, you can prevent anyone else from making, using, or selling that product without your permission—period. It doesn’t matter how the infringers make the product or what they use it for, because the patent covers the product itself.

A method patent, by contrast, covers a specific way of doing something, such as managing a group of mutual funds, doing some form of genetic engineering, or testing a cancer drug. Whereas any use of a patented product infringes, a use of the patented method only infringes if the use replicates every step of the method described in the patent claims. Not surprisingly, patent lawyers usually think of product patents as far stronger, since they’re much harder to invent around. It might well be possible to come up with a way of testing of cancer drugs that avoids Myriad’s claims, but if I want to do anything with the BRCA1 gene in isolation from the body, I need Myriad’s permission.

That leads to several observations about the arguments. I saw three major themes: (1) Several justices seemed skeptical about the patentability of genomic DNA in isolation; (2) there also seemed to be broad-based acceptance of the idea that cDNA—which is synthesized, and lacks the non-coding regions found in genomic DNA—is a human invention; and (3) everything was tempered by concern about the “settled expectations” of the marketplace, and the need to maintain adequate incentives to innovate.

On the first point, multiple justices—at least seven, at various junctures and in various ways—challenged the idea that simply isolating genomic DNA from its natural environment in the body moved it from the product of nature category to the realm of inventions. Most pointedly, Justice Sotomayor got Myriad lawyer Gregory Castanias to agree that “if you cut off a piece of the liver” you wouldn’t have patentable subject matter, and then said, “So what’s the difference?” Castanias struggled to answer, leading Justice Breyer to start ruminating in his academic way, arriving at the Delphic pronouncement that “everything is inside something else.” Castanias’s most effective response may have been to suggest that rather than wrestling with these imponderable questions under section 101, it would be most efficient to let the novelty and obviousness standards do the work of screening out dubious patents—a position that some individual judges of the Federal Circuit have previously taken. Here, Justice Breyer criticized that view, although Chief Justice Roberts evinced some sympathy for it.

But however much Castanias struggled, things seemed to go at least as badly for ACLU lawyer Christopher Hansen when attacking the subject matter eligibility of cDNA. In fact, there seemed to be broad acceptance of Justice Sotomayor’s statement (not a question) that “it is not a product of nature; it’s a product of human nature.” Hansen responded (very oddly, for one claiming that cDNA is not patentable) that “there are two big differences between cDNA and DNA.” Throughout, Hansen failed to stress the point that had persuaded the district judge: that irrespective of the chemical differences between cDNA and naturally occurring DNA, the two had exactly the same informational content.

There was also some evidence of support for a compromise position suggested by Solicitor General Donald Verrilli, who argued for the government: Find cDNA patentable, but not isolated genomic DNA. (Verrilli’s position effectively threw the Patent Office under the bus, since it has long taken the position that isolated DNA is clearly patentable subject matter.) Justice Sotomayor got right to the point: “Is there some value to us striking down isolated DNA and upholding the cDNA?” Justices Breyer and Kennedy also expressed interest in such a compromise.

On the third issue, a concern for economic and scientific consequences of the decision ran through the whole argument. Justice Scalia raised the issue bluntly: “Why would a company incur massive investment if it can’t patent?” When Hansen referred to the “enormous recognition” that comes from isolating a gene, Scalia responded, with his trademark sarcasm, “Well, that’s lovely.” Justices Kennedy, Kagan, and Sotomayor raised the same concern in less caustic terms, while other questions probed the other side of the issue—whether over-zealous patent protection would impede basic research. The Court clearly recognizes the Three Bears dilemma that it faces in almost every patent case: avoiding giving either too much protection (and hurting basic science) or too little (and undercutting necessary financial incentives), and instead getting it just right.

So what do I think will happen? Well, first I should emphasize, as I always do, that it’s dangerous to infer judges’ opinions from their questions to lawyers. They may be probing the lawyers’ arguments by playing devil’s advocate, trying to improve their own understanding, or sometimes—no names here—just being cantankerous.

But that said, this case might be different, with the justices seeming to give evidence of well-developed views. Almost everyone who has heard or read the Myriad argument has the same prediction: the Court may well strike down isolated genomic DNA patents while upholding those on cDNA. I agree.

And that leads to a final question: What difference will it make? If the Supreme Court invalidates genomic DNA patents, it will be seen as a win by the growing personalized medicine industry. Companies using isolated genomic DNA to screen patients at multiple gene loci will no longer have to worry about whether the genes they are testing are patented—though the industry hasn’t seemed terribly worried about that problem thus far.

But beyond personalized medicine’s potential interest in the Myriad outcome, as Dan Vorhaus and I have written many times, the significance of the case is probably overrated. (For example, Myriad’s own patents will all expire in the next couple of years, and the company has announced that it will base its expanding business in Europe not on patents but on its proprietary database of associations between gene variants and clinical outcomes.) There are not that many businesses like Myriad, in the sense of successful enterprises built on existing single-gene patents. If the genes-in-isolation patents are rejected, competitors may not be able to start offering second-opinion testing before the patents would’ve expired anyway. Going forward, single-gene patents are going to be hard to get regardless of this decision because of a stricter obviousness standard. And if all that were not enough, newer sequencing technologies may be able to avoid using patented single genes in isolation, which would avoid Myriad-style patents entirely.

So the Supreme Court’s decision will attract huge, if not hysterical, academic and public interest, but the market may already have moved beyond it.

The hearings, convened jointly by several subcommittees of the House Energy and Commerce Committee, were announced last week following a pointed letter to the FDA (pdf) from seven committee members on March 1st. In the letter, the Congressmen pressed the FDA for information on the agency’s mHealth regulatory timeline and the implications for innovation and industry of the proposed regulations.

A Preview of Guidance to Come. As covered previously here at the Genomics Law Report, in July 2011 the FDA released draft guidance (pdf) outlining its intent to regulate a limited subset of mobile medical applications based on their perceived risk to patients and consumers.

In testimony before Congress, which was supported by a formal written response to the House subcommittee’s inquiry (pdf) as well as a recent FDA blog post, the FDA provided substantial additional clarity regarding its regulatory intent and the timeline for finalized mHealth regulatory guidance. Here are the highlights:

Timing. According to Christy Foreman, Director of the Office of Device Evaluation at the Center for Devices and Radiological Health, the draft guidance published by the FDA in 2011 is expected to be finalized in the coming weeks. When pressed for a more specific deadline during the hearings, Foreman promised final guidance by the end of the FDA’s fiscal year (i.e., September 30th).

While useful for planning purposes, remember that there are those within Congress and the industry who might like to see mHealth oversight shifted to another area of the federal government, or removed from federal regulatory review altogether. Thus, while Foreman’s declaration that the final guidance is imminent is certainly noteworthy, it is not conclusive.

Scope. In keeping with its draft regulations, the FDA has given every indication that it is interested at this time in regulating only “a small subset of mobile apps” – those that meet the definition of a device under Section 201(h) of the Food, Drug, and Cosmetic Act (FDCA) “and are intended for use as either: (1) an accessory to a regulated medical device, or (2) transform a mobile platform into a regulated medical device.” (Per FDA’s written comments to the House.)

While this narrow scope, and the FDA’s other comments at and after the House hearings, seem to clearly rule out certain mobile devices and platforms – iPhones and iTunes, for example – as regulatory targets for the time being, there is still likely to be a considerable regulatory gray area for mHealth developers and investors to navigate. In that vein, the FDA notably referred all questions related to the applicability of the Affordable Care Act’s 2.3% medical device excise tax to the IRS.

Statistics. The FDA also provided some statistics about its mHealth regulatory activities to date, presumably to help bolster its claims of targeted and efficient mHealth regulation. In response to one specific question from Congress, the FDA’s written response (pdf) disclosed that over the past decade the agency had received “approximately 100 [medical device submissions] for mobile medical apps” and that, during 2011 and 2012, the “average total time from submission to FDA decision was 110 days.”

While that timing is in line with average FDA review times for 510(k) submissions — which apply to moderate risk devices and seem likely to govern many newly regulated mHealth applications — it should not be taken as a complete measure of the length of the regulatory process, since it ignores important pre-submission activities and agency meetings.

Additional Information and Next Steps. For those interested in more on the Congressional hearings, full video and written testimony are available through the Energy & Commerce Committee’s website and excellent live-blogging and other coverage was provided by mobihealthnews.

With the hearings over, the mHealth community will now wait for the next development which — barring an unexpected burst of activity from Congress or another federal agency (and there are plenty of options, as we have discussed) — will likely be final mobile health application guidance from the FDA later this year.

The AMARC letter, issued by a regional compliance office and dating to this past December, is unremarkable in most respects. The majority of the letter focuses on website copy, printed information packets, customer testimonials and other materials that appear, at least to the FDA, to represent claims made by AMARC that the Poly-MVA supplement is “intended for use in the cure, mitigation, treatment, or prevention of disease,” thus making it a drug subject to FDA regulatory approval.

What has captured the attention of several FDA watchers, however, is the “claim” that the FDA highlights about three quarters of the way through its letter:

We also note claims made on your Facebook account accessible at: https://www.facebook.com/poly.mva, which includes a link to your website at www.polymva.com. The following are examples of the claims:

In a March 10, 2011 post which was “liked” by “Poly Mva”:

• “PolyMVA has done wonders for me. I take it intravenously 2x a week and it has helped me tremendously. It enabled me to keep cancer at bay without the use of chemo and radiation…Thank you AMARC”

In a May 5, 2010 post you provide a link to the blog post titled, “Children with Cancer Often Use Alternative Approaches” which can be found on your website at www.polymva.com/blog-news/218/children-with-cancer-often-use-alternative-approaches. At the end of the post is the following statement and a link to the website, www.facr.org:

• “For information on how palladium lipoic complexes can nutritionally support the body during cancer and cancer therapy, visit the Foundation for Advancement in Cancer Research’s website.”

According to the FDA, “liking” a Facebook post or providing a link to third party material through a Facebook page is evidence that ARMARC was itself making the claims in the third party content on behalf of its own products.

This apparent guidance from the FDA is noteworthy for what it means for regulated and potentially regulated companies (more on that below) and, perhaps more so, for the manner in which it was delivered: buried deep within in an otherwise unremarkable letter to an otherwise unremarkable supplement marketer.

The FDA and Social Media. For several years now, many stakeholders in the drug and device industries have lamented the lack of clear guidance from the FDA regarding the appropriate use of social media. As in many other areas where traditional FDA regulatory paradigms have been shaken up by scientific and technological advances, the agency has been relatively quick to recognize the need for guidance, but far slower to provide needed clarity.

In 2009, the FDA held a “Public Hearing on Promotion of FDA-Regulated Medical Products Using the Internet and Social Media Tools.” Then, in 2011, the FDA issued a draft guidance document on the much more limited topic of “Responding to Unsolicited Requests for Off-Label Information About Prescription Drugs and Medical Devices” (pdf) in which the agency acknowledged the existence of emerging social media tools and technologies, but limited its guidance to one highly specific consumer/patient-company interaction that may or may not occur through social media. Rather than formal and final guidance or rulemaking, most of the FDA’s activity surrounding the appropriate use of social media has occurred by way of private conversations or public, company-specific warning letters and similar communications, such as in the AMARC example discussed above.

The faint light at the end of the tunnel is a provision buried deep within last summer’s FDA Safety and Innovation Act (FDASIA) (pdf). The primary purpose of the FDASIA was to reauthorize a number of important FDA user fee programs, including the Prescription Drug User Fee Act (PDUFA) and the Medical Device User Fee Act (MDUFA), and authorize other fees and programs designed to speed and improve drug and device reviews and approvals. But the FDASIA also contained several other items of interest.

One we have covered previously at the Genomics Law Report was the requirement that the FDA collaborate with other federal agencies to deliver, within 18 months of the FDASIA’s passage, a strategic framework for information-technology regulation, including mHealth technologies. (Sec. 618) Another item, of more relevance to this discussion, was the requirement that the FDA, within two years of the FDASIA’s passage, “issue guidance that describes [FDA] policy regarding the promotion, using the Internet (including social media), of medical products that are regulated by [the FDA].” (Sec. 1121)

Unfortunately, the FDASIA-imposed deadline, assuming it is timely met by the FDA, is still more than a year away, meaning that clear, comprehensive and formal social media guidance from the FDA likely remains over the horizon.

Implications for Consumer Genomics. If all of this sounds familiar to regular readers of the Genomics Law Report, well, it should.  Here’s a one-sentence synopsis of the FDA’s history with social media:

Disruptive technological and scientific advancements fail to fit neatly into preexisting regulatory categories, leading to case-by-case oversight and as-yet-unfulfilled promises for greater transparency and clarity.

Unfortunately, that same synopsis would apply equally to the FDA’s handling over the past three to four years of consumer genomics products and companies (see, e.g., here, here and here).

That’s not really a surprise. Science and technology have historically advanced far more rapidly than legislators or regulators can hope to keep pace, and the explosion of social media and genomic sequencing technologies have left the FDA scrambling.

But the AMARC letter and the FDA’s continued approach of case-by-case regulatory authority as opposed to clear and comprehensive industry guidance is yet another reminder to the personal genomics industry that an absence of formal regulatory guidance does not equate to an absence of regulatory risk.

We’ve written at length at the Genomics Law Report (see, e.g., here, here, here and here) about the importance of intended use in guiding the likely regulatory response to consumer genomics products and services. With AMARC, the FDA indicated its willingness to look far beyond explicit product labeling and messaging (e.g., what’s on the product package or on the official company website), in this particular case to Facebook  “likes” and links.

In the absence of formal guidance, how far the FDA’s gaze will ultimately stretch in seeking evidence of intended use remains to be seen. For instance, does a retweet on Twitter, as with a Facebook “like”, imply endorsement? What about a company choosing to follow, “friend” or connect with a third party who makes claims about the company’s product? As usual, the problem with case-by-case oversight is that it frequently produces more questions than answers.

So while we await further clarification from Washington, D.C., consumer genomics companies and management would do well to remember that, in addition to their actual and potential customers, regulators may be monitoring their Facebook, LinkedIn, Twitter and other social media accounts and that even seemingly innocuous activities – a “like” here, a retweet or #followfriday there – might one day be used against them.

The Genomics Law Report has covered the brewing constitutional controversy of DNA fingerprinting upon arrest previously, as U.S. v. Mitchell tentatively settled the matter in the 3rd Circuit, as the 9th Circuit continued to wrestle with Haskell v. Harris, and as various state courts, including Minnesota and Colorado [pdf], faced similar questions.

Background on Maryland v. King.  Alonzo Jay King, Jr. was arrested in 2009 and charged with first- and second-degree assault. As part of his initial arrest, King submitted to DNA fingerprinting collected by law enforcement under the Maryland DNA Collection Act. More than half the states [pdf] have statutes similar to Maryland’s, and there is also a similar federal statute (the DNA Fingerprint Act of 2005 [pdf]). King admitted to his involvement and was ultimately convicted of second-degree assault, a misdemeanor and an offense not qualifying on its own for DNA collection upon arrest under Maryland’s law.

King’s DNA fingerprint (or CODIS profile) was entered into the database and some months later matched a profile from an unsolved 2003 home robbery and rape case. Police obtained a warrant and collected a second DNA sample that confirmed the match. King’s attorneys were unsuccessful in their attempts to suppress the DNA evidence during trial, arguing that the initial DNA collection was unconstitutional since at that time there was no individualized suspicion of King being involved in the rape and the collection was performed without a search warrant. Ultimately, King was convicted of first-degree rape and sentenced to life without parole. The DNA evidence was essential to his prosecution.

King appealed the conviction, and the Maryland Court of Appeals [pdf] ruled that the initial DNA collection was unconstitutional as applied to arrestees, holding that the defendant’s privacy interests outweighed the government’s interest in obtaining the information.

The State of Maryland applied for a stay of the judgment, which the Supreme Court granted [pdf] on July 30, 2012. This allowed the state to continue DNA collection pending its appeal to the Supreme Court. The State filed petition for certiorari [pdf] on August 14, 2012, which was subsequently granted on November 9, 2012.

Framing the Argument. The Petitioners (the State of Maryland) argue [pdf] that the question before the court is this: “Does the fourth amendment allow States to collect and analyze DNA from people arrested and charged with serious crimes?” The Petitioners argue that the DNA collection is a minimal intrusion: only the individual’s identity is at stake; arrestees have a lowered expectation of privacy generally than do other citizens and there is no reasonable expectation of privacy in identity (i.e., no right to anonymity); and that the presumption of innocence does not buoy an arrestee’s privacy interest. Petitioners also argued that DNA fingerprinting upon arrest advances important government interests, including identification with accuracy and solving crimes expeditiously.

The Respondent (King), on the other hand, frames [pdf] the question before the Court as this: “Whether the Fourth Amendment permits the warrantless collection and analysis of DNA from a person who has been arrested for, but not convicted of, a criminal offense, solely for use in investigating other offenses for which there is no individualized suspicion.” In their Reply brief [pdf], the Petitioners noted that King conceded that the reasonableness inquiry of the Fourth Amendment does not require a warrant or individualized suspicion when the intrusion is minimal and further argued that a balancing test confirms the search was reasonable, recognizing that King overstated his privacy interests in non-coding loci and the state’s significant interests in collecting such information from arrestees.

In addition to the briefs by the parties, leading up to the oral arguments, twenty-three amici briefs were filed (and are available here).

Highlights from the Oral Arguments. Oral arguments before the Supreme Court are strictly timed and feature rapid fire questioning from all directions of the bench. The oral arguments for Maryland v. King were no exception, but here are some of the key questions that received attention.

Key Question #1: Which legal test shall be applied?

Predictably, much of the questioning from the bench focused on which test is applicable for the constitutional analysis: a balancing test (weighing the relative interests of the government with the privacy interests of the individual, who in this case is Mr. King) or a special needs test (articulating a specific exception to the requirement of a warrant). Justices Kennedy, Kagan and Scalia pressed for answers on whether the Petitioner argues that the policy in question – collecting a DNA sample upon arrest, analyzing the sample to generate a CODIS profile, and then comparing that profile to those already in the system (see here for additional GLR coverage on CODIS profiles) – is a search incident to an arrest or is justified by a special needs exception.

Later in the hearing, Justice Breyer pressed the Respondent for specifics regarding how a balancing test would decide the matter, noting that DNA fingerprinting involving a cheek swab is less intrusive (likely meaning less of an inconvenience from a practical standpoint in the context in which it was stated) than dermatoglyphic fingerprinting, is far more accurate in identification of the individual, and helps not only inculpate but also exculpate individuals. It seemed apparent that Respondent did not satisfy Justice Breyer’s desire for information on how DNA fingerprints are different from existing arrest procedures (e.g., mug shot photographs and dermatoglyphic fingerprints) and, importantly, how DNA fingerprints are worse (in terms of the intrusion of privacy, the possibility of abuse, etc.). Shanmugam, on behalf of the Respondent, conceded during argument that dermatoglyphic fingerprinting is not a search, as the individual has no expectation of privacy in that information. Justice Breyer tried to elicit more legal and practical arguments from Shanmugam on why DNA fingerprints are distinguishable not only on legal but also practical grounds.

Legal scholars and practitioners yearn for the Supreme Court to issue an opinion in Maryland v. King that clearly establishes which test applies in this area of Fourth Amendment jurisprudence.

Key Question #2: Is there a legitimate, reasonable expectation of privacy in one’s DNA?

Chief Justice Roberts wasted no time questioning Respondent on the boundaries of genetic privacy. Chief Justice Roberts drew attention to opportunistic DNA sampling and analysis that can occur (e.g., as individuals shed DNA on a cup of water in an interrogation room and elsewhere), noting “you cannot keep this private.” Chief Justice Roberts indicated Respondent was “begging the question” rather than demonstrating there is a “legitimate expectation of privacy” in a person’s DNA. Justice Scalia explained it plainly and simply: if there is no expectation of privacy, there is no search.

A person typically does not have any privacy interest in personal characteristics “constantly exposed to the public” (e.g., handwriting, voices, facial features) (United States v. Dionisio, 410 U.S. 1, 4 (1973)). The questions posed during oral argument in Maryland v. King did not make distinctions between expectations of privacy in the DNA sample itself versus the information that could be obtained from subsequent analysis of the sample. While the CODIS profile is just a limited analysis of a set of markers not currently informative for accurately predicting traits and conditions expressed in a particular individual, there is a potential for misuse if law enforcement looks genome-wide. Justice Alito compared this danger to urine analysis for drug testing, recognizing that the courts have allowed urine drug testing notwithstanding the fact that urine can be analyzed for a whole slew of information above and beyond drug use.

It is anyone’s guess how the Justices will define the scope of genetic privacy and whether any recognized expectation of genetic privacy will be determined to be reasonable for Fourth Amendment purposes.

Key Question #3: Does the government have a compelling interest in having access to information about adjudicated and possible (but not yet adjudicated) criminal activity?

Justice Kennedy suggested he was not content with the Respondent’s attempts to characterize the DNA fingerprinting as a “warrantless, suspicionless search.” J. Kennedy focused on whether having not only an arrestee’s name but also information about an arrestee’s adjudicated criminal record and links to prior crimes not yet adjudicated is important information for judges to have “from the outset” in making critical decisions at bail hearings. Justice Kennedy reiterated this point when the oral arguments turned to the issue of turn-around time for DNA fingerprinting. Even if turn around time is on the order of months rather than hours, Justice Kennedy noted the value of having such information for making and later reconsidering bail decisions. Whether an arrestee is a flight risk or of particular danger to the public while awaiting trial is informed by other dangerous and/or unlawful activities, regardless of whether those activities have been fully adjudicated.

Key Question #4: What is “identification”?

What does the word “identification” mean for Fourth Amendment purposes? Justice Breyer asked this very question. Arrestees could lie about their names. Photographs may reveal current appearance that could be used to provide information about whether victims, witnesses, and other individuals recognize the person, but appearances can be altered. While it did not come up during the oral argument, John Doe warrants (i.e., arrest warrants based exclusively on a DNA fingerprint to identify the perpetrator otherwise unknown/unnamed) rely upon DNA as the exclusive means of identification.

On this issue of what is identification and what are identification purposes, Justice Sotomayor honed in on importance of time. Can a technology be used for identification purposes if it takes weeks or months to learn of the results? Justice Ginsburg questioned whether offender DNA profiles are routinely matched to other DNA profiles, a process which would indicate that the government is using the DNA fingerprint as an identification tool. The Petitioners admitted that this is not the normal process. Justice Sotomayor explained that currently DNA fingerprinting upon arrest is not used for identification purposes but, rather, for crime-solving purposes. She elaborated that this practicality has only been because the technology has not moved fast enough for it to be used for identification in the way other procedures (e.g., dermatoglyphic fingerprints, mug shot photographs) are. Justice Scalia had earlier noted that the Petitioner’s opening remarks that DNA fingerprints assist in crime-solving success rates does not demonstrate its constitutionality.

While not specifically stated during the oral arguments, this question about the definition of identification in light of DNA fingerprints has been looming for a decade or more. It has been recognized that “the ability to briefly stop [an individual], ask questions, or check identification in the absence of probable cause promotes the strong government interest in solving crimes and bringing offenders to justice” (United States v. Hensley, 469 U.S. 221, 229 (1985)). But the courts have not defined “identification.” Numerous states recognize identification may be obtained not only through the common practice of checking a driver’s license but also from fingerprints, palm prints, footprints, blood and urine specimens, saliva and hair samples, voice and handwriting exemplars, photographs, etc. (See, e.g., N.C. Gen. Stat. 15A-271) John Doe arrest warrants identifying the perpetrator not by name or by specific description of appearance but, rather, by DNA fingerprint have been previously allowed (e.g. State v. Dabney [pdf], Wisconsin v. Davis [pdf], People v. Martinez) [pdf]), but have not been specifically examined by the Supreme Court. How the Supreme Court defines “identification” in its decision of Maryland v. King could have far-reaching implications for criminal procedure.

Key Question #5: Must this case be decided on the facts of today or the possibilities of tomorrow?

During oral arguments Justice Kagan explored a scenario 10 years in the future wherein a DNA fingerprint may be entered into a computer system and results are reported as quickly as current arrest booking procedures, providing immediate information of name, criminal record and links to unsolved cases. During the Petitioner’s rebuttal period, Chief Justice Roberts questioned, “How can I base a decision today on what you tell me is going to happen in two years?” Justice Scalia explained, “You [the Petitioner] can’t demonstrate the purpose [of DNA fingerprinting] is identity now.” Ultimately both sides have asked the Court to look beyond the present realities and consider future possibilities. For example, the Petitioner explained DNA fingerprinting takes an estimated 11-17 days presently, but projected that same-day results are a short 18-24 months away. And while the markers in the CODIS profile are not presently informative for biomedical conditions, the Respondent urges consideration of the potential information that might be discovered from CODIS markers in the future, pointing to the ENCODE project.

A recent decision may provide clues as to which Justices would be more likely to use future possibilities to rule on the current constitutionality of the practice of DNA fingerprinting as part of routine arrest booking procedures. The split 5-4 decision in Clapper et al. v. Amnesty International et al. [pdf], holding that plaintiffs had no standing to challenge a foreign surveillance law based on their “hypothetical future harm,” placed Justice Alito with Chief Justice Roberts and Justices Scalia, Thomas and Kennedy on one side of the issue (declining to find standing on the basis of such a hypothetical future harm) and Justices Breyer, Ginsberg, Sotomayor and Kagan on the other. Only time will tell whether the Justices will align themselves similarly when considering the relevance of future possibilities (e.g., rapid DNA analysis) or “highly speculative harms” (e.g., biomedical information that is not presently but might potentially be discovered from CODIS markers) in the context of Maryland v. King.

Predictions and Conclusions. Some law scholars have been willing to make predictions on how the Supreme Court will decide the case. For example, David Kaye has predicted DNA fingerprinting upon arrest will be upheld (i.e., that the Supreme Court will overturn the Maryland Court of Appeals), stating “…I am betting that the Court will write a broad opinion upholding DNA database laws at all points after arrest. But IMHO, it’s a close question.” SCOTUSblog has predicted the decision will come down to Justice Kennedy’s vote. If forced to predict, I would anticipate a split decision that uses a broad definition of “identification” and upholds this “fingerprint for the 21st Century;” however, I haven’t the foggiest as to whether a biometric identification exception will be created or whether a balancing test will be applied to reach that decision.

Both events underscore the increasing importance of data to the business of personalized medicine. In addition, today’s news suggests that 23andMe’s efforts to refocus the company to maximize its most valuable asset – “an engaged, enthusiastic and growing community of customers-qua-research-participants” who supply the raw genetic, phenotypic and other material for 23andMe’s expanding database – continue apace.

Either way, in securing another massive round of financing and lowering its price to $99, the last company standing of the direct-to-consumer (DTC) genetic testing pioneers appears unlikely to be joining deCODE, Navigenics and others in abandoning its consumer-facing approach any time soon.

We’ve written extensively about deCODE here at the Genomics Law Report over the years, including the company’s well-publicized bankruptcy and privatization two years ago. That transaction left plenty of deCODE shareholders out in the cold, and those shareholders aren’t likely to be feeling any better about things this winter.

Two years ago, questions were raised regarding how the newly private deCODE would utilize one of its most noteworthy assets: it’s database of genetic and other personal health information about Icelandic citizens. Those questions are likely to resurface now, as Amgen seeks to extract $415 million worth of a company that it bought – at least according to one of deCODE’s owners – in large part for access to deCODE’s data. Expect the usual assurances, but remember that those assurances are only as strong as the paper – and legal framework – upon which they are premised.

Meanwhile, it’s quite likely that the sale to Amgen will usher in the final chapter of deCODE’s long-running direct-to-consumer (DTC) genetic testing business, deCODEme. deCODEme’s sole product – the deCODEme Complete Scan – covers 47 conditions and traits and retails for a whopping $1,100. That’s significantly more than than the $299 $99 [see update next post] competitor 23andMe currently charges for its own test; a test which covers 200+ traits and also includes a popular genetic genealogy component. It’s also nearly double the whole exome DTC product recently announced by new market entrant DNA DTC.

Indeed, it has been quite some time since deCODEme was priced anywhere close to competitively with other comparable DTC genetic testing products. The fact that deCODE’s founder and CEO Kari Stefansson will apparently be staying on as president of deCODE post-acquisition suggests there is some chance that deCODEme might be preserved, at least in the short-term. Still, it’s hard to envision how a DTC genetic testing business really fits into Amgen’s long-term plans here.

This summer, Life Technologies purchased erstwhile DTC genetic testing provider Navigenics this summer, in large part for access to the company’s CLIA-certified laboratory. Following the acquisition, the DTC consumer piece of Navigenics’ business was quickly shuttered. With Amgen’s purchase of deCODE, and its promise to focus on speeding drug candidate identification and development, it’s quite likely that a similar fate is set to befall the now-seemingly-irrelevant deCODEme. If and when that happens, the DTC genetic testing industry will mark the departure of another of its founding members, leaving 23andMe the last member standing of the initial crop of companies that introduced us to direct-to-consumer, genome-wide products five years ago.

Update 12/12: As predicted, Amgen has now confirmed that deCODEme will be shutting down. An Amgen spokesperson confirmed to Pharmacogenomics Reporter that “Amgen does not intend to continue offering genomic screening tests to the public and healthcare providers. This is not a core part of Amgen’s business interest in Decode…Employees and resources focused on this area will be realigned with other priorities and projects.”

As mHealth developers, funders and even users consider investing in the field, or including in particular mHealth technologies, they should keep in mind the emergent and fluid nature of the mHealth regulatory landscape. Here, we outline the likely key players and discuss several recent and projected initiatives with respect to the oversight of mHealth technologies:

The Food & Drug Administration (FDA). The FDA is responsible for protecting and promoting the public health through the regulation of, among other things, food safety, pharmaceutical drugs, and medical devices. Under emerging FDA mHealth oversight, the key question is which mobile medical technologies constitute “medical devices” that the FDA will focus on for regulatory action?

A medical device is generally defined as an instrument or machine whose purpose is to diagnose, cure, or treat a disease or other condition. Through draft guidance released in July 2011, the FDA expressed its intention to regulate only mobile medical applications that present the greatest risk to patients when they do not work as intended. The guidance defined a small subset of mobile medical apps that may affect the performance of currently regulated medical devices and will thus require FDA oversight. This subset included medical apps used as an accessory to a medical device already regulated by the FDA (for example, an app that connects the mobile device to vital signs monitors, cardiac monitors, or similar devices), as well as apps that transform a mobile platform into a regulated medical device through the use of attachments or sensors (for example, an app that acts as a blood glucose meter by using an attachment to a mobile device, or an app that uses a mobile device in determining blood donor eligibility prior to collection of blood). Further, certain mobile apps were intentionally excluded from FDA regulation, including mobile apps that are electronic copies of medical textbooks and reference materials, as well as those apps that are used only to record and track decisions related to maintaining general health and wellness (and not treatment). In the FDA’s recently published list of proposed guidance documents that it intends to publish during the 2013 fiscal year, the FDA listed “mobile medical applications” on its “A-list” for final guidance, and continues to seek comments, suggestions and draft language from interested persons.

In addition, in July 2012, President Obama signed into law the FDA Safety and Innovation Act (FDASIA). The FDASIA directed the FDA to develop, within 18 months, a strategic framework for information-technology regulation that “promotes innovation, protects patient safety, and avoids regulatory duplication.” This framework is intended to include mHealth technologies. Further, the FDASIA created a multi-agency commission to propose a strategy for regulating mobile health apps. However, the commission’s strategy is not due to be released until later in 2013; quite likely after the FDA releases its first set of final regulations for mHealth devices.

The Federal Communications Commission (FCC). While the FCC might not automatically be associated with the regulation of health care, the FCC has the authority to manage the electromagnetic spectrum. Therefore, the FCC may regulate every medical device that uses radio technology.

The FCC has taken several steps in recent years to promote mobile technology in health care. The FCC released the country’s first National Broadband Plan in 2010, which included suggested methods to aid innovation and improvement in the health care system. The FCC and the FDA also entered into a Memorandum of Understanding in 2010 in order to “promote collaboration and ultimately to improve the efficiency of the regulatory processes applicable to broadband and wireless enabled medical devices.” Earlier this year, the FCC adopted new rules that made the U.S. the first country in the world to allocate spectrum for Medical Body Area Network (MBAN) devices.

Even more recently, the FCC released a report by its mHealth Task Force that included a number of recommendations to government, education, and the private sector to expand their collaboration efforts and to adopt policies intended to foster growth in mobile health technologies, including a recommendation that the FCC “play a leadership role in advancing mobile health adoption.” The FCC has already announced plans to act on at least some of the mHealth Task Force recommendations, including by the end of the year in some cases.

The Federal Trade Commission (FTC). The FTC has also been active in the area of mobile health technologies. Pursuant to the Federal Trade Commission Act (FTCA), the FTC regulates unfair or deceptive acts and practices, including false and misleading claims about a product or service. In recent years, the agency has shown a willingness to regulate mHealth devices and apps. For example, last year the FTC sanctioned two apps developers for claiming, without the necessary research to support that claim, to be able to treat acne through colored lights emitted from a mobile device.

The FTC has also exhibited a strong and growing interest in mobile applications more broadly, recently publishing a resource—Marketing Your Mobile App: Getting It Right from the Start—to aid developers in avoiding regulatory pitfalls in designing mobile apps. While not specifically aimed at mHealth developers, the recommendations—including truthful claims, complete disclosure about information practices and the inclusion of “privacy by design” features—are clearly applicable to mHealth apps.

For example, if an mHealth app developer makes claims about the app’s capabilities, there must be “competent and reliable evidence” to support those claims. In the context of mobile health applications, as the FTC further notes, this requires competent and reliable scientific evidence. The FTC’s aforementioned action against the acne app developers is instructive: the developers claimed that their app could treat acne, but had no scientific evidence to support the claim.

The Department of Health and Human Services (HHS). In addition to the FDA, which is a division of HHS, HHS also oversees certain other privacy and security aspects of mHealth, including under its authority to enforce the Health Insurance Portability and Accountability Act (HIPAA). While a detailed analysis of HIPAA is beyond the scope of this article, HIPAA generally requires covered entities (i.e., health care providers, health plans and health care clearinghouses), along with their service providers and other “business associates,” to comply with security and privacy regulations designed to protect patients’ protected health information (“PHI”). Numerous health care providers have embraced mHealth (even if many of them do not necessarily understand why they are pursuing mHealth initiatives), meaning that many mHealth technologies, and especially those that collect, access or transmit PHI, are likely to directly or indirectly implicate HIPAA.

In addition, mHealth technologies are frequently integrated or intended to be compatible with electronic health records (EHRs), which implicates the Health Information Technology for Economic and Clinical Health Act of 2009 (HITECH). HITECH was passed in order to encourage eligible providers and hospitals to make “meaningful use” of health information technology, including EHRs, by providing incentive payments to those eligible groups. Expectedly, increased tax-payer funding brings increased regulation to its recipients, and HITECH accordingly tightened the enforcement and civil penalties under HIPAA and applied certain HIPAA liability provisions to business associates that were previously inapplicable. HITECH also provides individuals with a right to obtain their PHI in an electronic format from a provider that has implemented an EHR system. Any mHealth developer who wishes to take advantage of HITECH’s incentive payments should make itself aware of the applicable HIPAA and HITECH regulation, including the recently issued Stage 2 Meaningful Use Regulations.

These considerations, along with the constant threat of health care data breaches—exacerbated by the portability and vulnerability of mobile devices—make mHealth an area of increasing importance for HHS. It should come as no surprise, then, that HHS recently established its own mHealth Initiative.

State Regulation. Even after navigating the myriad Federal agencies and regulations applicable to mobile health applications and products, there remains the matter of additional state law requirements. As we were reminded again last year in Bonanni, a HIPAA preemption case arising in Michigan, Federal statutes and regulations frequently establish only a “floor” (e.g., for the protection of PHI), with states having the freedom to enact their own more stringent legislation. Similarly, California’s Online Privacy Protection Act requires all mobile app providers to conspicuously post a privacy policy for review by end users. Earlier this fall, California’s attorney general put developers (including mHealth developers) on notice that, starting in December, the law (which carries fines of up to $2,500 per download of a non-compliant app) will be enforced.

As health data privacy and the oversight of mobile applications each continue to garner attention at the state level, mHealth constituents should expect to pay close attention to what’s happening in state capitols, as well as in Washington, D.C.

What’s Next? As is seemingly always the case with emerging technologies, the regulation and oversight of mHealth technologies lags behind. But as the above summary highlights, mHealth oversight is hardly non-existent, and mHealth companies and their investors ignore existing oversight at their own peril.

As for forthcoming oversight of mHealth technologies, while there is always the possibility of new legislation at the state and/or federal level (for example, a recent proposal in the House of Representatives would create a special Office of Mobile Health at the FDA), it is far more likely that additional oversight will come from within the existing legislative framework. With that in mind, it is encouraging that the major Federal agencies responsible for the oversight of mHealth technologies already have active mHealth programs in place. It is even more encouraging that inter-agency communication and coordination is, at least on paper, a clear priority.

How exactly this will ultimately play out over the next few years remains to be seen, of course, but the issuance of some additional Federal-level oversight for mHealth technologies appears nearly assured. Fortunately, there are already numerous opportunities for those businesses and individuals interested in the future of mHealth to make their voices heard.

Robert Cook-Deegan contributed to this commentary. Dr. Cook-Deegan is a research professor in the Institute for Genome Sciences and Policy and the Sanford School of Public Policy at Duke University.

The Supreme Court today granted a writ of certiorari (meaning they agreed to hear the appeal) in Assoc. for Molecular Pathology v. Myriad Genetics, Inc., et al., the famous case centered on patents covering two human genes: BRCA1 and BRCA2.

Of note is that the Court limited its grant of the appeal to the first of the three questions posed by the petitioners/plaintiffs: “Are human genes patentable?”

What that means is that the Court has declined to take up other questions presented about method claims and about standing to sue. As a result, the Federal Circuit’s prior holding that the bulk of Myriad’s challenged diagnostic method patents are invalid is now a final decision. This comes as no surprise given the Supreme Court’s recent and decisive opinion tightening the criteria for medical method patents in Prometheus v. Mayo, handed down earlier this year.

Instead, the Court will address – and will only address – the central point of disagreement in the 2-1 decision of the Court of Appeals for the Federal Circuit of August 16, 2012. In that ruling, Judges Lourie and Moore were in the majority, upholding their previous 2011 ruling that isolated DNA molecules are patentable subject matter. Judge Bryson dissented with that part of the ruling, and the Solicitor General has twice (here and here) filed briefs in the case that track closely to Judge Bryson’s dissent.

By granting the appeal, the Supreme Court is now poised to finally address the key point of contention in a series of lengthy and contradictory rulings that began in 2010 with a ruling from a US Federal District Court and continued through the the Court of Appeals for the Federal Circuit (which hears appeals of all US patent cases). It is expected that the Supreme Court will hand down its ruling in Myriad by June 2013.

As for the substance of that ruling, while there will be plenty of speculation about what the Supreme Court’s decision to grant certiorari portends for the future of gene patents, all we know for certain is that four justices (the minimum number needed to grant certiorari in any case) have something that they want to say about the matter. We do not know what any individual justice might want to say, or even whether the other five justices want to say anything at all.

Perhaps, the Court will reverse the Federal Circuit’s prior holdings and find Myriad’s gene patents invalid. Or perhaps, the Court will affirm the Federal Circuit, and in so doing clarify the law surrounding product patents, including gene patents. Come next summer we will finally have our answer (at which point we can all move on to the next controversy in genetic testing).

The announcement from Gene By Gene is newsworthy for several reasons, including:

1. The Return of True DTC Whole Genome and Whole Exome Sequencing. According to DNA DTC, the company offers a range of products “utilizing next generation sequencing including the entire exome (at 80x coverage) and the whole genome.” The company’s website, while fairly spartan, appears to bear this out. Whole exomes ($695 at 80x coverage) and genomes ($5,495 at 30x coverage) are both listed as available products.

Now, Gene By Gene is not, as its Wikipedia page claims (as of this writing), “the first commercial company to offer whole genome sequencing tests.” Knome earned that honor more than four years ago, when it started selling whole genome sequences for $350,000; an astounding price, either low (given the cost of the first human genome was $3 billion) or high (given that, well, it was $350,000) depending on your perspective. Gene By Gene probably does represent, however, the only commercial company currently offering a whole genome sequence in a truly direct-to-consumer (DTC) manner.

Knome, the DTC whole genome sequencing pioneer, has left the DTC business, focusing instead on genomic interpretation for commercial and academic customers. Knome briefly had some competition for DTC whole genome sequencing from Illumina, but Illumina’s offering – while still around – requires the extensive involvement of a medical professional in both the ordering and return of the individual’s genomic results.

The Genomics Law Report has discussed, several times (see here and here), what the label “direct-to-consumer” really means in the context of genetic testing, given the myriad companies and products to which that label is applied. However, in its most commonly used and complete formulation, a DTC genetic product (e.g., a genetic test or service) is one that an individual can order, receive, review and share with others without being required, at any stage in that process, to engage a healthcare professional (e.g., a physician or a genetic counselor) as an intermediary. While not everyone believes that sort of DTC model is a good idea, that model remains the one that most people – proponents and critics alike – appear to have in mind when they talk about “DTC.”

As far as can be ascertained from DNA DTC’s website, as well as its press release, the company qualifies as a provider of true DTC genetic/genomic products. 23andMe, the acknowledged market leader in DTC genetic testing, employs the same DTC model, but it’s exome pilot product ($999) continues to remain closed to new customers and the company does not (yet) offer a whole genome sequencing service. Thus, DNA DTC appears to be the only company currently offering a truly DTC whole exome or whole genome product.

2. The First Data-Only DTC Product. Taking a closer look at DNA DTC’s product offerings reveals something else interesting: the company appears to be selling data-only products. For DNA DTC’s exome product, the company notes simply that “we disclose the variants that have been identified, however no analysis or interpretation will be provided.” The company’s whole genome sequencing product description is even more direct: “data analysis not included.”

From the outset of DTC genetic testing, the goal for almost every company has been customer engagement, with the genetic test itself invariably paired with some type of interpretive service aimed at assisting the customer in understanding and exploring their personal genomic data. Some of these services – including Family Tree DNA’s own “Family Finder” service – have certainly been more successful than others, but never has any meaningful participant in the DTC marketplace offered a product without any interpretation or analysis whatsoever (i.e., raw data only). That appears to have changed with DNA DTC.

There are several possible explanations for this. First, as has been much discussed over the past two years, analyzing and interpreting a whole genome sequence is not free. Nor is it easy. Just how expensive and difficult it is has been the subject of much debate (see this Genomes Unzipped piece by Daniel MacArthur for a helpful discussion), but if you’re going to offer whole genome sequencing for under $5,500, your profit margin will undoubtedly be higher if all you are providing is the raw sequence data.

Second, while the FDA has indicated at intervals in the past few years that it intends to more closely scrutinize the DTC genetic testing industry, the FDA has never suggested – nor do I think it likely – that the agency intends to turn its regulatory gaze upon providers of raw genetic or genomic data. Much more likely is that, if and when the FDA acts again in the DTC marketplace, the agency will focus on specific interpretive claims made by DTC products, perhaps requiring companies to take those claims with potential clinical relevance through the FDA premarket approval/clearance process. 23andMe started this process over the summer and, perhaps, DNA DTC is seeking to skirt the time, expense and uncertainty associated with an FDA review by simply eliminating all interpretation and analysis (and thus all potentially problematic claims) in connection with its DTC products.

The lack of any reasonable possibility that DNA DTC could be alleged to be providing a clinical genetic test may also help explain why DNA DTC’s press release features a Senior Vice President at Illumina (Matt Posard) pronouncing Illumina to be “…very excited to be involved in building such a well rounded offering.” At first blush, this might seem like a risky move for Illumina given that (a) it has already received one letter from the FDA warning the company against knowingly providing research use only (RUO) devices to DTC genetic testing companies and (b) last summer the FDA published stringent new draft RUO/IUO guidance warning providers of RUO/IUO devices (like Illumina) not to sell such products to laboratories they know use products other than for research or investigational purposes. Presumably, however, the lack of any interpretation or analytic service in connection with the DNA DTC products (along with Illumina’s ongoing – and since 2010, at least, publicly unchallenged by the FDA – relationship with 23andMe, which uses a very similar Illumina RUO product to the one used by DNA DTC in its genotyping product) convinced Illumina that there was no material risk of FDA action over this particular DTC supply relationship.

3. An Impetus for Interpretation-Only Products? The real question of course, is whether consumers will line up to purchase any of these bare bones genomic data products from DNA DTC. While neither the exome nor the whole genome products are cheap in the abstract, they each still likely represent the cheapest option in their respective classes for individuals looking to directly access their genomic information. (Note, however, that the $5,495 price tag on the whole genome product may be misleading as, at least as of this writing, it was only possible to place in order in multiples of three genomes, raising the actual price tag to $16,485.)

For the motivated consumer (with several hundred or thousand dollars of disposable income), there is plenty that might be done with even raw genomic information, including taking advantage of free genomic interpretation services such as Promethease or openSNP. However, both of those services are aimed at relatively sophisticated users of genomic information and, morever, since it’s currently unknown exactly how DNA DTC returns data to its customers, it’s possible that such services may not integrate well or at all with DNA DTC.

More importantly, even if current services are interoperable with DNA DTC, how many potential consumers fall into this category? Certainly dozens. Possibly hundreds. Anything much beyond that, at least today, seems very unlikely.

What is easier to imagine, although likely not imminent, is the future emergence of a more consumer-friendly genomic interpretation service that would integrate, directly or indirectly, with low(er)-cost, data-only providers like DNA DTC to guide consumers from data receipt to interpretation. In many respects this is exactly what Knome has already done in a different corner of the genomics marketplace, pivoting from a provider of genomic sequence data to a platform-agnostic provider of genomic interpretation services. There’s no obvious reason why something similar couldn’t one day happen in the DTC marketplace, assuming sufficient consumer demand. It’s not too difficult to envision an interpretation-only company offering to improve the experience of understanding and managing otherwise unwieldy consumer genomic information just like, for example, Mint.com already does for otherwise unwieldy consumer financial information.

4. Building a Genomic Data Resource (Without Telling Anyone)? While it seems unlikely that consumers will be beating down DNA DTC’s door any time soon, a word of caution to any would be consumers: remember to carefully read the company’s Terms and Conditions and Privacy Policy. Beyond the usual egregiously one-sided limitations of liability, warranty disclaimers and indemnification provisions that so frequently afflict website terms and conditions, DNA DTC’s policies clearly suggest that the company intends to partner with third parties to conduct “scientific/medical research or conduct or support the development of drugs or devices.” That in and of itself is not so unusual, as plenty of other DTC companies, including 23andMe, have indicated an interest in leveraging their customer data for commercial gain.

What is concerning is that, apparently, DNA DTC is entitled to share it’s customers’ genomic information without specific and informed consent. Here is the operative language from the Privacy Policy:

If you have given consent to participate in any of the Gene by Gene services offered by any of the websites owned and operated by Gene by Gene as described in a specific consent document, we may have your record, information or test results disclosed to third parties for the purpose of publication in a peer-reviewed scientific journal. From time to time, we may ask for explicit consent to participate in a specific research, and upon this consent we may allow research contractors to access your test results, which will be kept anonymous, for the purpose of conducting scientific research. In addition to providing its customers with answers to their genetic related questions, Gene by Gene also aims at advancing genetic knowledge and creating, commercializing, or undertaking activities toward the practical applications that may lead to the improvement of health care. If you do not give your explicit consent to participate a specific research, Gene by Gene may still use your record, information or test results for purposes such as quality control or other R&D activities. Records, information or test results used for such purposes may be disclosed to third-party research partners who will not publish the information in a peer-reviewed scientific journal. Research partners may include commercial or non-profit organizations that conduct or support population genetic studies, scientific/medical research or conduct or support the development of drugs or devices to diagnose, predict, or treat health conditions. (emphasis added)

In short, while it appears that Gene By Gene (the legal entity responsible for DNA DTC) might ask for customer consent for certain research projects, where consent is either not requested, or not granted, the only restriction on Gene By Gene’s use of customer genomic information is to refrain from publishing that information in a peer-reviewed scientific journal. Needless to say, that’s not much of a restriction.

Given the newness of the DNA DTC venture, it’s possible that this represents unintentional ambiguity and not an attempt to entice customers to purchase low-cost genomes and exomes while building, behind the scenes and buried in DNA DTC’s Privacy Policy that only a few people will likely ever read, a database of genomic information that Gene By Gene can use – perhaps in parallel with its already massive database of genetic genealogy records – in pursuit of profitable (at least to the company) research and other commercial collaborations. Then again, it would not be the first attempt by a DTC genetic testing company to do just that (although TruGenetics quickly disappeared from the DTC scene).

Either way, prospective customers who care how their genomic information is used (and, of course, not all do) would be well-advised to clarify directly with the company just how it intends to use their information, as well as when explicit consent will be required. They should also ensure that the company’s answers are consistent with its written policies. And DNA DTC, for its part, would be well advised to preemptively clarify the same with its prospective customers, as the backlash over 23andMe’s patent issuance earlier this year helps to illustrate.

5. Something New for DTC. Apart from 23andMe, recent developments in the field of DTC genetics have largely involved companies either turning away from a true DTC approach (e.g., Pathway Genomics, Counsyl), leaving the field altogether (e.g., Navigenics) or simply pricing themselves out of the marketplace, thereby eliminating any likely controversy (e.g., deCODEme).

There’s good reason to be skeptical about the commercial potential of DNA DTC’s product offerings, particularly given the lack of any interpretation component and uncertainty surrounding how the company intends to use its customers’ data. Nonetheless, it’s impossible to deny the success Gene By Gene has had with its Family Tree DNA business and, whether DNA DTC succeeds or not, it’s refreshing that the (non-ancestry) DTC genetics/genomics field appears to have a new entrant offering a (somewhat) new product and an (apparently) new business model.

It may feel as if DTC genetic testing has been around forever, but in reality the industry just turned 5 years old this month. And as in any nascent industry, an attempt at a little innovation – as well as a little disruption – is almost always a welcome development.