Release of Henrietta Lacks’ genome causes uproar

It was only one genome, among the many thousand that have now been sequenced and released publicly. But this wasn’t just any sequence; it was the sequence of Henrietta Lacks, a tobacco farmer whose ovarian cancer cells, HeLa, have launched countless research projects. A news release from the European Molecular Biology Laboratory, where the genome was recently sequenced, was greeted mostly with yawns by the media until some realized that the lab had neither sought nor received permission from Lacks’ descendants to release the data. A flurry of activity on social media alerted Rebecca Skloot, author of the best-selling book The Immortal Life of Henrietta Lacks, who investigated the situation through discussions with researchers and the family. Her opinion piece in the New York Times on 23 March 2013 outlined the ethical, legal, and social issues that arise from this case and foreshadow a legal quagmire to come unless our privacy policies and legal protections are updated in parallel with our technology—and in a hurry. Skloot quotes Francis Collins, director of the National Institutes of Health, as saying, “This latest HeLa situation really shows us that our policy is lagging years and maybe decades behind the science. It’s time to catch up.” Skloot’s essay throws out a “new round of ethical questions for science: though their consent is not (yet) required for publishing private genetic information from HeLa, should it be? Should we require consent before anyone’s genome is sequenced and published? And what control should gene-sharing family members have?” It’s up to the medical genetics community to help answer these pressing questions. —Karyn Hede, News Editor

Call to “free the data” draws attention: contribute your variants!

Diagnostic molecular genetic testing requires development of databases containing rigorously validated genetic variants that have been assessed and adjudicated for their clinical implications. As large-scale whole-exome or -genome sequencing is increasingly employed, we require open, accessible variant databases that contain this vital information. But access to risk information for two of the most high-profile inherited disease genes, BRCA1 and BRCA2, has been denied by Myriad Genetics, the genes’ patent holder. Regardless of the US Supreme Court’s ruling on the validity of gene patents, Myriad will be sitting on a potential goldmine of proprietary information. Its database detailing the breast and ovarian cancer risk conferred by variants found in myriad (pun intended) women will remain private. But now an effort to recreate that database in the public domain is drawing media attention. An article appearing in the New York Times on 21 April 2013 details the plan by the National Center for Biotechnology Information to launch a publicly available, open-access database called ClinVar to host deidentified genotype and phenotype information for hereditary disease gene variants, including the BRCA genes. The article highlights the efforts of Robert Nussbaum, of the University of California, San Francisco, to collect the data from diagnostic reports that were generated by the company and provided to clinicians and thousands of patients who underwent testing. Individuals and physicians can contribute to the effort through its website, http://www.sharingclinicalreports.org. —Karyn Hede, News Editor

Genetics in Medicine| Mission Statement

Genetics in Medicine is a monthly journal committed to the timely publication of:

  • Original reports which enhance the knowledge and practice of medical genetics

  • Strategies and innovative approaches to the education of medical providers at all levels in the realm of genetics

As the official journal of the American College of Medical Genetics and Genomics (ACMG), the journal will:

  • Provide a forum for discussion, debate and innovation concerning the changing and expanding role of medical genetics within the broader context of medicine

  • Fulfill our responsibility to the College membership through the publication of guidelines, policy statements and other information that enhances the practice and understanding of medical genetics

Finally, as genetics becomes increasingly important in the wider medical arena, we will be an accessible and authoritative resource for the dissemination of medical genetic knowledge to providers outside of the genetics community through appropriate reviews, discussions, recommendations and guidelines.