Cleveland Clinic Pathologist Urges Contract Solution for Return of Genomic Data

The Cleveland Clinic’s Roger Klein responds to my previous GLR post:

Roger-Klein-MD-JDThe Office of Civil Rights’ interpretation of the requirements of 45 CFR § 164 could pose problems for clinical laboratories and the professionals who practice within them. Although the issue of providing benign variants for a single gene, at least prospectively, would be straightforward, a broad definition of the designated medical record set could result in considerable complexity when one considers large-scale sequencing. Some excluded data can be of variable reliability, may be prospectively filtered by software, or may otherwise be omitted from the patient report because of professional interpretation and judgment. One can legitimately argue that this interpretation and judgment, as reflected in the patient report, should serve as the gateway to the official medical record.
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Filed under Genetic Testing/Screening, Genomic Sequencing, Genomics & Medicine, Genomics & Society

UNC Geneticist Comments on Testing Laboratories’ Duty to Return Genomic Data to Patients

UNC’s Karen Weck responds to my previous GLR post:

I agree in principle that patients have the right to access their genomic data; however, in practice it is much more complicated (as things often are). Giving a patient his/her raw sequencing data would be meaningless – it is the interpretation of the clinical significance of sequence data that is important when reporting results. This latter requires the expertise of molecular genetic laboratorians and clinical geneticists. We do not return all genomic sequence variants to individuals in exome sequencing, for example when we determine that they are unlikely to be contributory to their disease or medical health. It is important to those of us doing this that we retain the ability to use our professional judgement to determine what should be reported to patients as medically relevant, primarily so as not to dilute important medical information with irrelevant information.

Karen E. Weck, MD
Professor of Pathology & Laboratory Medicine and Genetics
Director, Molecular Genetics
University of North Carolina at Chapel Hill

Filed under Genetic Testing/Screening, Genomic Sequencing, Genomics & Society

ACLU v. Myriad Genetics, Round 2: The Problem of Governance-by-Guidance

MyriadJust about everyone interested enough in genomics and the law to read this post will know that the American Civil Liberties Union waged a long and ultimately successful legal campaign to invalidate Myriad Genetics’ patent claims to isolated BRCA genes, mutations of which are linked to breast and ovarian cancer. Now the ACLU has launched a second front, this time attacking Myriad’s post-patent business model of maintaining its vast and unique database of genotype-phenotype associations as a trade secret. GLR reported on that evolving strategy two years ago.

The new ACLU attack has, thus far, received modest attention in the scientific press, and some of what has been reported is inaccurate. In this post I will briefly review what has actually happened and then try to sort out fact from fiction in the reportage. The bottom line is that the federal government has not created new stealth regulations dealing with the disclosure of genomic data to patients. It has, however, used the practice of governance-by-guidance to make significant new policy, which is problematic enough in its own right.
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Filed under Genomic Policymaking, Genomics & Society, Myriad Gene Patent Litigation, Patent Litigation, Patents & IP, Pending Litigation