Despite the wealth of promise that genetic information holds to prevent, treat, and cure disease, there are also real risks to consider in how that information could be used against a patient or research participant once it exists.
In a new article published in the Annals of Internal Medicine, authors Deborah Stiles, JD, and Paul S. Appelbaum, MD, explore patients’ concerns about the privacy and discrimination risks surrounding their genetic information after undergoing genetic sequencing. Overall, “internists and other physicians whose patients ask about legal protections for information generated by genome sequencing for clinical purposes can provide both reassurance and caution,” they wrote.
The Precision Medicine Institute (PMI) spoke recently with Dr. Appelbaum to gain deeper insights into the issue of privacy and patient concerns in genetic medicine. The following transcript has been edited for length and clarity.
Paul S. Appelbaum, MD, the Elizabeth K. Dollard Professor of Psychiatry, Medicine and Law, and Director, Center for Law, Ethics and Psychiatry at Columbia University Medical Center, was previously A.F. Zeleznik Distinguished Professor and Chairman, Department of Psychiatry; and Director, Law and Psychiatry Program, University of Massachusetts Medical School. He has authored many books and articles about law and ethics in clinical practice. (Photo courtesy of Paul S. Appelbaum, MD)
PMI: Tell us a bit about your background and what this topic means to you.
Appelbaum: My career has focused on legal and ethical issues that arise in the context of psychiatric treatment and medical treatment more broadly. As a psychiatrist by training, confidentiality is something I’ve written about in many areas in both treatment and research contexts. Over the last decade or so, a lot of my attention has been focused on issues related to the introduction of genetic technologies in medicine. As we said in the piece, if you survey patients about their concerns related to genetic information, privacy is near the top. It’s what is on people’s minds if you suggest they undergo genetic testing, either for clinical or research purposes.
PMI: How important are privacy concerns to the overall advancement of genetic medicine?
Appelbaum: To the extent that people are concerned about their privacy and the implications of having a dataset sitting somewhere with their genetic information on it, they will be more reluctant to participate in genetic research. That will be an issue for large-scale precision medicine research programs, such as the national All of Us program with its goal of enrolling one million people, and smaller-scale, more focused research that’s aimed at elucidating the genetic components of specific disorders. Protecting the privacy of genetic research participants really is going to be essential to advancing our knowledge about the genetic underpinnings of disease.
PMI: What specific concerns do people have about their genetic information and how do they rank?
Appelbaum: People are very concerned about their insurers obtaining their genetic information and using it against them. They’re usually well aware that when they apply for many kinds of insurance that they’re required to give access to their medical records to the company before it makes its underwriting decision. It’s important to note that the protections of federal law—the Genetic Information Nondiscrimination Act (GINA)—extend only to health insurance. Many people are [understandably] worried about life insurance, disability insurance, long-term care insurance, and other forms of coverage. That’s a very real issue among the public.
Less frequently voiced up front are concerns about family members getting access to their information. If you talk to clinical geneticists or genetic counselors, they will tell you that they have all run into situations in which they have conveyed information about genetics—propensities for disease, genetic variants that increase risk for cancer, or other serious conditions—and heard back from patients that they don’t want their family members to know about it. Families are peculiar things and can become estranged in profound ways. And even if they are in possession of information that can be potentially life-saving, in some cases, patients simply don’t want to convey it or have anyone else convey it to their families. That’s a very real-life situation that is becoming more common today as more genetic information is in the hands of the patient.
PMI: Are there risks particular to research participants?
Appelbaum: I think we haven’t fully thought through all of the ways in which a body of medical, including genomic, information can be brought into play in a person’s life. It’s not only in the clinical setting. For example, a life insurance company has the right to get ahold of your medical records—and if you’ve had your genome sequenced, that information is going to be there, and they will now have access to it. Once such information exists, it can usually be linked to you. Even in a research study, it becomes available, for example to the legal system. If someone brings a tort claim, for example, genetic information can be quite relevant to the determination of how much compensation they receive based on how long they’re going to live. Until now, courts have relied on actuarial data, but now they can learn specifically if a person has a gene variant that’s likely to end their lives prematurely. Such information could also be used against a parent or guardian in a custody battle. There are all kinds of ways this information can come back into people’s lives while it exists. And at the moment, there are no barriers to the kind of access I’m describing.
PMI: There is a lot of important information for physicians in your paper, but what is the takeaway message for healthcare executives?
Appelbaum: I met with a hospital executive of a local system not that long ago, who was interested in exactly that question—which is to say, “What should we be worried about?” As we begin accumulating genetic information and placing it in a patient’s electronic record, it can be available in all kinds of ways, including by subpoena. The most protective kinds of decisions surround exactly what should be included in patients’ medical records, and moreover, whether full-scale genetic sequencing is really necessary in cases where more limited gene panels might be just as likely to yield medically useful answers. [Systems should use] caution both in generating the information in the first place and in deciding what gets stored for the future. These are both concerns the hospital industry needs to be thinking about.
Genetic discrimination occurs when people are treated differently by their employer or insurance company because they have a gene mutation that causes or increases the risk of an inherited disorder, according to the National Library of Medicine’s online Genetics Home Reference.
Fear of discrimination is a common concern among people considering genetic testing. However, protecting the privacy of genetic research participants will be essential to advancing knowledge about the genetic underpinnings of disease.
In addition to the federal law known as GINA, numerous state statutes and bills have been introduced between 2007 and 2019. The National Institutes of Health National Human Genome Research Institute maintains a state statute and legislation database that is reviewed and updated monthly.
—Debra A. Shute