Rapid advances in the field of genetics are raising a host of questions and story ideas for health reporters to cover.

On April 24, 2015, at the Health Journalism 2015 conference in Santa Clara, California, four panelists spoke about where the field of genetics stands today and discussed the controversies and questions that need to be addressed as the field progresses. The panel was officially called the Clinical, Ethical and Research Sides of Genetics.

This panel was fascinating! My net takeaway is that the science has been moving faster than regulatory bodies can keep up in some areas, and slower than we would like for people facing life-threatening diseases.

The panel was organized and moderated by Scott Hensley, co-host of NPR’s Shots blog. The panelists were:

• Emily Drabant Conley, Ph.D., director of business development at 23andMe, a direct-to-consumer genetic testing company based in Mountain View, California
• David Magnus, Ph.D., director of the Stanford Center for Biomedical Ethics (and other appointments)
• Neil Schiffman, a patient advocate living with stage 4 non-small cell lung cancer, clinical trial participant
• Henry T. Greely, director of the Center of Law and Biosciences at Stanford University (and other appointments)

Much ground was covered in the 90-minute session — way too much for one blog post! I have summarized the things I found the most interesting from the first two speakers here in Part 1, and posted highlights from the last two speakers in Part 2.

Dr. Conley: Update on 23andMe

The FDA has relaxed their stance on consumer genetic tests in response to increasing evidence that consumers are able to understand the difference between risks and outcomes.

First, before I outline what Dr. Conley presented, here is some background information for context. In November 2013, the FDA ordered 23andMe to stop selling direct-to-consumer genetic tests in the U.S. At the time, the FDA cited concerns for the potential health consequences that could result from false positive or false negative assessments for high-risk indications, such as BRCA-related ovarian and breast cancers, and the potential for patients to self-manage dosages or abandon drug therapies altogether without physician consultation, which could be dangerous for some drugs.

Dr. Conley spoke about the recent approval to market the test in the U.S. and what led to the change in stance by the FDA. In February 2015, the FDA issued the first approval ever for 23andMe to market a test for Bloom Syndrome, stating that in many circumstances, it’s not necessary for consumers to go through a licensed practitioner to access DNA information. The test has the potential to provide people with information about autosomal recessive disorders, where possible mutations in parents’ genes can possibly be passed on to their children. Dr. Conley discussed the independent study results that formed the basis of the FDA submission and said, “We needed to first demonstrate that the test is accurate, and secondly, that users could comprehend this information. Not just savvy, sophisticated users, but that average users could interpret the results and make sense of them.” The findings she presented were quite compelling.

I found it interesting how regulatory bodies in the U.S. and Canada have taken different approaches to the ethical considerations of consumers understanding the difference between risks and outcomes. When a pared-down version of the test was launched in Canada in October 2014, Health Canada passed the buck to the provinces to determine if medical and privacy information would be handled adequately. But the horse had already left the stable: 20,000 Canadians had already ordered the broader-range test kits from 23andMe’s website and imported them prior to the Canadian launch.

Consumer genetic tests are a stepping stone in a much bigger business plan for 23andMe. 

In January 2015, 23andMe announced a new therapeutics division and signed billion-dollar deals with Genentech and several pharmaceutical companies. The division’s focus is to develop targeted drugs using human genetic data, hopefully speeding up the development pipeline dramatically compared to traditional methods that start with animal research. Hear her speak in this interview for Bloomberg Business.

What does that mean? Consumers consent to allow 23andMe to use their genetic information, stripped of their identity to ensure privacy. You might think at first blush that most consumers would balk at the company selling their data to for-profit drug companies, but Dr. Conley said that the opt-in rate is 80 per cent.

Dr. Magnus: Ethical challenges of next-generation sequencing

Magnus drew a chuckle from the audience when he said his presentation would cover a different topic and he “wouldn’t compete with the infomercial” we had just seen from Drabant Conley. His work at Stanford focuses on examining ethical issues in reproductive technologies, organ transplantation –and end of life issues in adults and children. His presentation focused on the broad ethical challenges that are arising as next generation sequencing moves into the clinic:

• Informed Consent: As genetic testing has moved from information about a single trait to a larger panel of full sequencing, what does that mean for informed consent? For example, if non-invasive prenatal testing in a single process becomes the norm, is it necessary to seek informed consent across a whole range of disease possibilities? How should the uncertainty of results be communicated to people both before and after the results are available?
• Risks: What are the risks of false positives? There has already been a case of false paternity from 23andMe test results.
• Privacy Issues: Data management is a huge burden because genomic data is inherently identifiable. There have been cases where de-identified information has been combined with other data and individuals were identified. The HIPPA Privacy Rule actually requires a low risk of identifiability, not zero!
• What Information Should Be Returned? Should only actionable findings or all findings be returned, even those of unknown significance? Who decides and controls the flow of information — patients, doctors, pathologists, hospital review boards?

The bottom line for me is this: Are we ready to know what we don’t know? What changes once we do?