AAAS Scientific Responsibility, Human Rights and Law Program

Cracking Your Genetic Code

NOVA documentary special produced in association with The Hastings Center and WGBH

Panelists with Scientific Responsibility, Human Rights and Law Program Director, Dr. Mark Frankel

Summary of the Panel Discussion

Scientists and Filmmakers Discuss the Science and Ethics of Personal Genomics

On March 19, 2012, AAAS sponsored a special advance screening of the NOVA documentary, Cracking Your Genetic Code. The film was a joint venture by WGBH Boston and the Hastings Center. As the cost of genome sequencing plummets, more doctors and patients are turning to genome sequencing for answers. The film features a number of patients in their quest for better diagnoses and treatment based on their genes. After the screening, filmmakers and scientists featured in the film participated in a panel discussion.

Dr. Francis Collins,
Director, NIH

The panel included NIH Director Francis Collins, M.D., Ph.D., Harvard University Professor Rudy Tanzi, Ph.D., Hastings Center President and CEO Thomas Murray, Ph.D., and the filmmaker, Sarah Holt. NOVA Senior Executive Producer Paula Apsell moderated the panel. The panel addressed some of the issues that arise when patients and doctors decide whether to try whole genome sequencing and, even more challenging, what to do with the results.

Both Dr. Collins and Ms. Apsell decided to have their DNA sequenced by consumer genetics companies so they could experience the process first hand. Dr. Collins described that, while the sequencing results were the same from the three companies he tried, for some traits, the interpretations about how his genes could contribute to disease or health were conflicting. It can be difficult to draw conclusions about health from genes alone, and it is rare for a single gene to singlehandedly determine the course of a disease.

Sarah Holt, Filmmaker

Personal genomics is in its infancy, and panelists warned that people who decide to have their genomes sequenced should do it with their eyes wide open, knowing that the results might raise more questions than they answer. Each of us has hundreds of genetic variants that disrupt genes, but we remain healthy, so finding which gene variants are important risk factors is difficult. Dr. Tanzi explained that for most diseases, there is an array of genetic variants that correlate with increased risk.

Even if a disease-causing gene variant is discovered, there may not be a drug intervention to treat it. Shortening the time-table between understanding the genetic cause for a disease and finding an effective intervention is a priority Dr. Collins has emphasized at NIH.

Dr. Thomas Murray, President and CEO, The Hastings Center

Often, the interventions will not be drugs; they will be changes in behavior. Through sequencing, Dr. Collins learned that he has a genetic variant that increases his risk of type II diabetes, so he made an effort to combat that risk by dieting, exercising and losing weight - the best known preventive measures for diabetes. It seems that learning something about your genome can affect the way you live, even if it may not lead to a targeted drug. In fact, Dr. Tanzi posed that if you have your genome sequenced, you will likely find you have at least some genetic variants that increase your risk of heart disease, diabetes, cancer or Alzheimer's disease, and diet and exercise are the best ways to fend off all of those conditions.

Dr. Rudy Tanzi, Professor, Harvard University

Although Ms. Holt had her own genome sequenced, she said that she would not let her children do the same because of the potential legal risks. Under current laws, not disclosing genetic information to life insurance, disability insurance or long-term care insurance providers is considered fraud, and that is not a risk Ms. Holt is willing to take for her children. Dr. Murray, who participated in some of the early discussions of ethical, social and legal issues (ELSI) of the Human Genome Project, said that protecting people's genetic information for health insurance and employment was a high priority, and those are now covered under the Genomic Information Non-discrimination Act (GINA).

Paula Aspell, Senior Executive Producer, NOVA

While much of the panel discussion focused on the big challenges in understanding and using genomic information, the panelists shared an optimism and excitement about the promise of personal genomics. Dr. Collins described the possibility of having genomic information readily available in secure medical records to help doctors decide which drug to prescribe and at what dosage. Combining genetic information with clinical assessments will help patients and doctors reach better diagnoses and treatment plans faster. A decade after the Human Genome Project sequenced the first human genome, genetic research is opening up new avenues for understanding and combating disease.

Kate Saylor
AAAS

View clips from the panel discussion:

• Reading Your Genome is Not the Same as Understanding It http://www.youtube.com/watch?v=phGOUnfNd3k
• Genetic Information and Behavior http://www.youtube.com/watch?v=WYJa9Novu-s
• Sequencing the Genomes of Children at Birth http://www.youtube.com/watch?v=jlbnHN2E5Vw
• Genetic Determinism http://www.youtube.com/watch?v=7GogM-PkS8o
• Genetic Complexity http://www.youtube.com/watch?v=yvPoSwQrprQ
• The Role of Lifestyle and Genetic Information http://www.youtube.com/watch?v=tzyCaNKm0Sk
• Gene Doping in Sports http://www.youtube.com/watch?v=_D0omyVJdOs

Resources and Additonal Information:

The Hastings Center

• Main page
• Online community for discussing the ethical dilemmas that arise from advances in science and technology, Help With Hard Questions.

WGBH

• Main page
• The Emily Rooney Show: Cracking Your Genetic Code an interview with Sarah Holt and Dr. Rudy Tanzi. View.

NOVA

• Watch the full program.

(page updated 03/06/2012)