Who has a claim to information that’s been deciphered from your DNA? And what happens to your genetic profile after you’re gone?
New forms of genetic testing can predict whether a couple will have a child with cystic fibrosis, guide doctors in selecting the most effective chemotherapy for a breast cancer patient, and help researchers unlock the causes of Alzheimer’s disease. While these advances have the potential to save lives and transform medical research, they also raise serious ethical questions about the balance between privacy and health – questions that scientists, bioethicists, patients, and families are just beginning to confront.
Who Has a Claim to Your DNA?
Does someone have a right to know if their aunt has a genetic condition they might also have inherited, even if she wants to keep it private? What obligation does the aunt, or the doctor who treats her, have to share this information with relatives who might be at risk?(a) If the aunt passes away, who decides how her genetic information should be shared after her death?
At the heart of these ethical debates is a question about the ownership of our genes: Does your genetic profile belong solely to you, or do family members who share parts of your DNA have some claim to it? In a recent survey by Mayo Clinic epidemiologist Gloria Petersen, University of Minnesota legal scholar Susan Wolf, and UC San Francisco bioethicist Barbara Koenig, 60% of people said that genetic information belongs not just to an individual, but also to all his or her blood relatives.1
The survey of 3,600 research participants, their family members, and members of the general public found that most believed family members have some claim to a person’s genetic information.(b) The overwhelming majority of survey participants said they would be “okay with” (93%) or even “feel obligated” (85%) to share important health information with relatives. Only 5% said they would want to keep genetic results private from family members even after their death.
Some early court rulings also support the concept of genetic information as shared property.2 In the late 1990s, a woman sued the estate of the physician who treated her father for colorectal cancer when she developed the same disease three decades after his death. In Safer v. Estate of Pack, the court supported her claim to her father’s genetic information and ruled that the doctor had a duty to warn her about her risk for the disease.
To Know or Not to Know?
While those concerned about health and the “right to know” argue for maximum disclosure, the countervailing interest is privacy and the “right not to know.” Not every patient wants to share their genetic information and not every family member wants to know what genetic risks they might have inherited. In a recent case out of Illinois, a woman undergoing in vitro fertilization was aware that her family had a genetic risk for early-onset Alzheimer’s disease.3 She chose to have her embryos screened for the mutation, but didn’t want to be tested herself or informed if any of the embryos had tested positive. The woman wanted to protect her future children from Alzheimer’s but – with her genetic fate already sealed and no cure available – chose not to know her own risk for the disease.
Unlike this woman, many people don’t have the chance to make their wishes known before genetic information becomes available, particularly if a family member is the one being tested. Petersen, Wolf, and Koenig’s survey revealed that, in such cases, many people favor the right to know over the right not to know.1 The vast majority (87%) said that medically relevant genetic information should be provided to anyone who could potentially be affected, even if it might upset some of these people. Only 13% believed that results should be withheld in order to protect those who might not want the information.
When Genetic Information Lives On
The balance between health and privacy, between the right to know and the right not to know, can become more complicated after a patient’s death, as it may fall on doctors and scientists to make difficult decisions about how to share important genetic information. For a patient who has their DNA tested in a clinical setting, this problem can be addressed by deciding what to do with the results while the patient is still alive. But what about a research participant whose genes will live on in a lab and continue to be analyzed by scientists for years to come?4
This question is important for the increasing number of people donating their genetic material to data warehouses known as biobanks, in the hope that this information can one day help unlock cures for diseases like cancer and Alzheimer’s.(c) Biobanks collect and manage human DNA and other biological materials, such as blood, plasma, and tissue, for use in medical research.
Scientists working with biobank samples may conduct research on a person’s genetic material and uncover new secrets in their DNA years after it was first donated. For instance, researchers working with genes from a pancreatic cancer biobank at the Mayo Clinic have identified dozens of samples with mutations that put patients and their relatives at increased risk of diseases such as breast and ovarian cancer (the BRCA2 mutation), malignant melanomas (CDKN2A/p16), and bearing children with cystic fibrosis (CFTR mutation).(d)
The majority of the patients with these mutations are now deceased, leaving no clear guidance for what to do with the newly discovered information. Petersen, Wolf, and Koenig’s survey suggests that the public believes this information must be shared with relatives who might be affected.1 Three-fourths of survey participants said that if researchers discover something medically relevant in a patient’s genes after the person’s death, they have a responsibility to share that information with surviving family members.(e)
The Right to Know
As more people have their genes sequenced and share the results with researchers, we will need a clearer answer to the question of who owns our genetic information and what happens to it after we pass away.
Petersen, Wolf, and Koenig’s survey found that public opinion is strongly in favor of the idea that genetic information belongs to families, not individuals. Their survey suggests that patients, family members, and the general public support the wider disclosure of genetic information so that people can protect their health, even if it comes at the expense of individual privacy or control. For most of the public, the right to know your genetic blueprint and the right to protect your health trump other concerns.
It will be up to researchers, clinicians, and bioethicists to create concrete guidelines for implementing these values. The systems they are developing to guide the disclosure of medically relevant genetic information should balance health and privacy while considering the interests of patients, family members, doctors, and researchers. Understanding the desires of patients and their families is an important first step.
- Barbara A. Koenig, Carmen Radecki Breitkopf, Susan M. Wolf, Marguerite E. Robinson, Kari Rabe, Noralane M. Lindor, and Gloria M. Petersen (2014) “Returning Incidental Findings to Family Members of Deceased Research Participants: Perspectives from a Cancer Biobank,” presented at the American Society of Human Genetics Annual Meeting, San Diego, CA: October 18-22.
- Kristin E. Schleiter (2009) “A Physician’s Duty to Warn Third Parties of Hereditary Risk,” AMA Journal of Ethics (formerly Virtual Mentor), 11(9): 697-700.
- Shirley S. Wang (2014) “Genetic Testing for Alzheimer’s Without Revealing the Results,” Wall Street Journal, October 13.
- Gloria Petersen (2014) “Disclosing Genomic Incidental Findings: A Researcher’s Perspective,” presented at the Individualizing Medicine Conference, Rochester, MN: October 6-8. See also: Sarah N. Boersemail, Johannes J.M. van Delden, Nine V. Knoers, and Annelien L. Bredenoord (2015) “Postmortem disclosure of genetic information to family members: active or passive?” The Cell, 21(3): 148-153; Anne Marie Tasse (2011) “The return of results of deceased research participants,” American Society of Law, Medicine & Ethics, 39(4): 621-30.
- (a)The position of the American Society of Human Genetics is that doctors should respect confidentiality and patient wishes by informing patients of genetic risks to family members but leaving it up to them to disclose this information to their relatives. The organization does support exceptions in circumstances where a patient refuses to share information that has the potential to result in significant harm.
- (b)The survey sample included 464 individuals who shared their genetic information in the Mayo Clinic’s pancreatic cancer biobank, 399 spouses and 1,040 blood relatives of these individuals, and a demographically matched control group of 1,727 people.
- (c)Biobanks speed up the research process by giving scientists access to a large amount of genetic and biological information without having to identify patients and collect specimens themselves. There is no definitive estimate of how many biobanks exist or how many samples they hold. A 2012 survey of more than 400 biobanks in the U.S. found that they housed, collectively, nearly 200 million samples.
- (d)These discoveries are known as incidental findings – information revealed in the course of research that may be significant for patients but is beyond the scope of the study or outside the original reason the patient became involved in the study.
- (e)People who participate in a clinical study or donate samples to a biobank may answer questions about how they and their family members should be contacted if, down the line, a researcher discovers something in their genes that has medical implications. However, even if a patient indicates to whom they would want their information disclosed after their death, that individual may no longer be alive, their relationship with the patient may have changed, they may not want to know the information, or they may not share it with all affected family members. (Source: Petersen 2014)