When should your genetic information trump your right to privacy?

DNA sequences like the one pictured in this image can help predict diseases for patients and their families, but the ethics and legality of sharing that information among family members are still unformed.

Research on the human genome is advancing at a tremendous pace, and the cost of genetic testing is falling just as quickly. But those signs of scientific progress also raise complicated ethical issues for doctors, researchers and patients.

If you agree to participate in a genome research study, what happens if the researchers find a risky gene in your sequence? Do they have an obligation to tell you? What if you don't want to know? And what about your family members, who might share that problematic gene with you? Do they have a right to know?

“We’re in a unique historical movement,” says Dr. Robert Green, a medical geneticist at Boston's Brigham and Women's Hospital and Harvard Medical School. I think in five years, or maybe seven or eight years, the cost and the availability of well-interpreted genomes will be so ubiquitous that anyone who's interested in finding out this information about themselves can readily and easily find out about it.”

But for now, there's a mess of conflicting demands and limited laws surrounding genetic information.

“The existing standard in clinical practice right now is that the wishes of the individual patient in front of you supersede your duty to contact the family,” Green explains. “You can certainly apply a lot of [pressure]; you can sit down with them and explain; you can give them letters to hand the rest of the family. But it's not considered unethical at this point in time to keep the information private at the request of the patient. In fact, it would probably be considered unethical to disclose it to family members without the patient's permission.”

That's even true when information can be vital for for the health of family members. “Let's say a researcher is doing a genetic study … and they discover that their participant has a variant of the BRCA gene, associated with higher risk of breast and ovarian cancer,” says Susan M. Wolf, the McKnight Presidential Professor of Law, Medicine and Public Policy at the University of Minnesota. “They go to that person and say, ‘We think it's important for you to know this, but we're also concerned about your sister, or your brother, and other members of your family.’"

Patients, even in such cases, can refuse to pass the information on. "[We] know those family members are out there essentially in danger, because they don't know about their genomic variant that puts them at risk," Green says. "This is a problem at the clinical level, and it's a problem at the research level.”

Wolf says there are also cases in which the patient's family members initiate contact with the researcher or the clinician, asking for information. The researcher then has to balance the obligation to protect the privacy of the research participant or patient against these family demands.

The legal picture isn't much clearer. “What the courts dominantly have said — because they [don’t] all agree with each other — is the doctor has an obligation to protect the privacy of the patient’s information,” Wolf says. Doctors can warn patients that they need to pass on information, but that's where their professional and legal obligations end.

The federal privacy law, HIPAA, has provisions that say a patient’s information is private and stays private even for 50 years after death, Wolf says. But there are some exceptions. “For example, if my relative's physician comes forward and says to my physician, ‘I really need Susan's genetic information to help me diagnose the brother.’ But that's still a very controversial exception. We're still sorting out the law in this.”

Green argues that both clinicians and researchers will eventually “have to think about genetic disease as more of a family-based issue.” In fact, some of ethical dilemmas disappear when genetic and genomic studies are designed to include the family.

One example is called trio testing. In this scenario, if a child has, say,  a cancer that is not responding to conventional treatment or a puzzling neurodevelopmental anomaly, then doctors might do genetic analysis on the child and both parents. The aim would be to find genetic reasons for the problems and perhaps new treatment options.

Since the parents are already involved and motivated to help a child, they are more likely to agree to sequence their own genomes and share the results.

This story is based on interviews from PRI's Science Friday with Ira Flatow.

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