Research participants have a right to their own genetic data

Anne Wojcicki, co-founder of 23andMe

The Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH) is an exceptional study that has the potential to transform medicine.  

As someone who proudly spent over 25 years as a patient with Kaiser, I would be excited to see my family’s medical records used for such a worthy cause.   I was disappointed, however, to learn that Kaiser will not be giving participating individuals the option to get access to the genetic data Kaiser generates in the study, as I said in my recent TEDMED talk.  

Yesterday, Cathy Schaefer, executive director of the RPGEH, commented on the Robert Wood Johnson Foundation blog that the research data will not be returned “because genetic information obtained through today’s genome-wide studies has not been designed to be useful to individuals; it is designed for use in research” (also noted by Genomics Law Report and Genetic Future).

I strongly disagree that one’s genome is currently only useful in research and not for individual use. There are a number of highly useful genetic results that may be generated.   Individuals may learn that they are carriers for Mendelian disorders such as cystic fibrosis or sickle cell anemia.   The genetic data might reveal that an individual is at higher risk for certain diseases such as age-related macular degeneration, blood clots, Parkinson’s disease or breast cancer.   Last, the genetic data may tell an individual whether or not they are likely to respond to certain drugs, like Plavix and Coumadin.   Is it right for Kaiser to tell me what information I can or cannot have about my own body and my own genes? I co-founded 23andMe, a personal genetics company, to enable individuals to access their genetic information–what we believe to be a fundamental right.  

We also believe this right should extend to research participants.  

Though the RPGEH plans to inform individuals if researchers discover something that “may be important to their health”, this is not the same as an individual having their complete data in hand, and it is unlikely that researchers would continue to update 100,000 participants as genetic research progresses. Even if genetic research is at an early stage today, having one’s genetic data will be of increasing utility as research progresses.   Individuals have a vested interest in understanding what their genetic data mean in the context of new studies.   They may examine their data through 23andMe, other companies, or open-source services such as SNPedia.  

The choices about what to do with that information are then with the individual, where they should be. My husband, Sergey, learned through the 23andMe test that he is at substantially higher risk for Parkinson’s disease. That information has had a significant impact on our lives.   We eat better and we exercise more.   We are motivated to follow, participate in, and fund Parkinson’s research.   This information is important for understanding our general health and for helping us plan our lives.   Some in the medical world do not believe we should have this information.   In fact, when the Parkinson’s variant was discovered, we were dissuaded from being tested because “there is nothing to do.”   But there are things one can do, and that choice should be ours. A growing body of evidence suggests that individuals do not suffer adverse effects from knowledge of their genetic data, and that public opinion leans strongly toward offering the return of results to research participants.  

For example, in a study of focus groups, the Genetics & Public Policy Center found that “focus group participants voiced a strong desire to be able to access individual research results.”   And far from frightening people, returning genetic results could provide an incentive for future recruitment into these important studies.  

Whole-genome information would also be useful to the growing number of people interested in genealogy. We also believe that researchers cannot know–and therefore should not dictate–what is or isn’t useful to individuals.   Even for “non-actionable” variants with severe consequences such as the ApoE e4 association with Alzheimer’s disease, research from the REVEAL studies at Boston University showed individuals may find personal utility in having their data.   For example, they may choose to prepare their family, buy long-term care insurance, or participate in research–these are choices individuals and families have a right to make with knowledge about their own health. Kaiser is breaking new ground with the RPGEH study but we believe they are missing a key component.  

Kaiser should afford the participants the respect they deserve by allowing them to decide for themselves whether they want to see their own genome.

  • Phantom

    The only surprising thing about the views expressed above are that there are people so paternalistic that they would deny patients the right to access their own data.

    I would also point out that there is no such thing as “non-actionable” information. Patients may chose to undertake some life projects early (vacation, climb a mountain, have children… or not!) instead of delaying until a retirement that may never come. They may save additional money in preparation for future medical expenses. They may chose to live in a city close to their family instead of accepting that promotion on the other side of the country.

  • JABovenberg

    Dear Anne,

    You could underpin your argument by reference to your nation’s Declaration of Independence which proclaims the right to Life, Liberty and the pursuit of Happiness, as an inalienable right.

    For the international perspective on the right to feedback for research participants in biobanks, see my recent paper: “Your Biobank, Your Doctor?” published in the Journal of Genomics, Society and Policy, available at

    You may be interested to read that in the Republic of Estonia, the Human Genes Research Act gives all participants in the Estonian Gene Bank not only the right not to know their genetic data but also “the right to access personally their data stored in the Gene Bank.” Notably, the Act also gives gene donors the right to genetic counselling upon accessing their data stored in the Gene Bank.

    The paper starts with the following quote from Sir William Osler:

    “To wrest from nature the secrets which have perplexed
    philosophers in all ages, to track to their sources the causes of
    disease, to correlate the vast stores of knowledge, that they are
    quickly available for the prevention and cure of disease — these are
    our ambitions.” – Sir William Osler, 1906

    Jasper Bovenberg, The Netherlands