Rapid advances in the field of genetics are raising all sorts of ethical questions and a host of story ideas for health reporters.

This is Part 2 of my earlier post summarizing a panel discussion which took place at Health Journalism 2015 on April 24, 2015 in Santa Clara, California.

Expert panelists discussed the controversies and questions that need to be addressed given the amazing recent advances in genetics. The panel was officially called the Clinical, Ethical and Research Sides of Genetics.

There was a lot of information packed into one 90-minute session! In Part 1, I summarized the highlights from the first two speakers:

• 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)

In this post, I am summarizing the key points from the last two speakers:

• 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)

Neil Schiffman: Navigating Clinical Trials 

Moderator Scott Hensley, co-host of NPR’s Shots blog said he invited a civilian on the panel to ground the discussion. Schiffman certainly did that and more. He spoke about how finding out which specific genetic mutations were driving his cancer meant that he received targeted treatments that so far have kept him alive.  

Schiffman has been living with non-small cell lung cancer for four years, no small feat as his cancer is stage 4 (the 5-year survival rate for stage 4 lung cancer is 1 per cent). He joked and said his cancer is really stage 5 because he “always has to be one better than everyone else.” Humor aside though, his circumstances are daunting and hard to fathom as he always had an annual physical, was very athletic and has always eaten a healthy diet. He admitted he still has the bias himself about most lung cancer being linked to smoking, even though he has never smoked.

Here are the key points he shared for people who are diagnosed with cancer: 

• Get genetic testing. Schiffman admits he was lucky to live near Stanford where testing was possible. “If you live in the right zip codes, there is a good chance you will get tested and get the right treatment. The right zip codes are near the big cancer centers: MD Anderson (Texas), Memorial Sloan Kettering Cancer Center (New York), Dana-Farber Cancer Institute (Boston) and University of California, Davis.” His tongue-in-cheek advice for people living in bad-luck zip codes? Move!

• Clinical trials are no longer considered a last resort for patients facing terminal illness. Schiffman said that with the advent of precision medicine, participating in a clinical trial is now a forward-looking strategy. He researched all the big cancer centers to find a clinical trial for the genetic mutations driving his cancer — EGFR and T790M.

• Timing of entry in a clinical trial makes a difference. Schiffman found a trial at Stanford but was reluctant to enroll because it was an early stage trial. He said, “Someone has to be first, but I didn’t want to be first. I know sometimes you can get kicked off a trial after three or four months if it’s not working, and that wasn’t going to be me.” Through his research, he found a better trial for a treatment that was targeted for both his primary and secondary mutation. 

Henry T. Greely: The Future of the Human Species

Greely spoke about the recent ethical controversies that have burst onto the scene as scientists and regulatory bodies alike are grappling with the ethics of new capabilities for human germline gene editing. These new techniques will have implications for humans and every other living thing on our planet. He covered a lot of ground in his ten-minute talk! The science is definitely moving faster than ethical considerations in these areas:

• Mitochondrial DNA (mtDNA) gene editing. This involves changing the DNA of a child by swapping out defective mtDNA from one mother with normal mtDNA from a second mother. The objective is to prevent rare mitochondrial diseases from being passed on from mother to child. Greely said that in spite of the lurid headlines about three-parent babies, the child actually receives 49.999 per cent of their total DNA from the father, 49.999 per cent from one mother, and .001 percent from another mother — the normal mtDNA section. The FDA ruled against the technique, but it was recently approved by the UK Parliament in February 2015. He said the FDA will soon be considering a new request for the technique from Oregon University and that he expects it will be turned down. 

• Whole DNA targeted editing using a new tool called CRISPR-Cas9. CRISPR stands for ‘clustered regularly interspaced short palindromic repeats’ and Cas9 is a protein that works together with guide RNA to cut a specific section of DNA out so a new sequence can be inserted. (See Vox Media’s post by Julia Belluz, A guide to CRISPR, the human gene-editing tool that has scientists excited and terrified. It’s an excellent explainer about how it works and the ethical issues.) Greely said there is already a patent fight among inventors Jennifer A. Doudna (University of California, Berkeley) and collaborator Emmanuelle Charpentier (Germany/Sweden), and Feng Zhang (MIT). Greely says the invention is likely Nobel Prize -worthy. The ethical ramifications are huge! While this is a great tool to eliminate disease, how do we decide what to allow? Should this tool be used for medical conditions? For enhancement purposes? Who decides? Doudna convened a meeting of stakeholders to discuss the issues and called for a pause in the scientific community to consider the ramifications of genome modification for creating babies. (Check out stem cell scientist Paul Knoepfler’s interview with Jennifer Doudna a few months ago: it’s a good post if you want to understand more about the controversy and read Doudna’s point of view).

Greely’s bottom line? CRISPR-Cas9 raises three important questions: 

• Is it safe? What kind of babies would be produced and with what kind of reliability?
• Is it necessary? When would we need to use this vs. pre-implantation genetic diagnosis which has been done for decades to select which embryos to be used for IVF carry genetic diseases?
• The bigger question: Should we modify our genes? Are we ready to play God?

He concluded by saying that he thinks non-human targeted gene editing will be more interesting in the near future, such as modifying DNA in mosquitoes to eliminate malaria.

There are scientists who would definitely agree with that point of view. To wit, a team at Harvard led by Dr. George Church is working on bringing back the wooly mammoth using CRISPR-Cas9