“I just don’t think we can tell her about this. Our great-aunt has early signs of dementia and is dealing with progressive multiple sclerosis. Plus, she never really coped with her son’s death. It’s a wound not worth reopening for her now.”
These were the words of one of my patients, reflecting on her nearly 80-year-old aunt. Both were members of a large family with long QT syndrome (LQTS). We had been discussing communication strategies for how to best inform others on that side of the family of their genetic risk. LQTS is an inherited disease characterized by an increased risk of cardiac arrhythmias and sudden death, which can be triggered by physical activity or startle responses. Sudden cardiac arrest may be the first manifestation of this disease if it goes untreated. Symptoms can arise at almost any age.
The aging aunt had a son who had died suddenly under unusual circumstances in his early 20s, about two decades before. Now, having pinpointed the LQTS-causing KCNH2 gene mutation in the family, I felt that his death might be related to the disease. If so, the aunt’s surviving children and grandchildren could be at risk as well.
My patient shuffled in her seat and then added, “We haven’t talked to most of the relatives on that side for 15 years or more. We’ve never really been close.”
After my discussion about how genetic testing can be both empowering and life-saving for a family, I redirected the discussion: “Well, we then have to ask ourselves: Do we have an opportunity to prevent dangerous events in one or more of your cousins? Would we be okay with not notifying them?”
My patient responded kindly. “I just don’t want to be the one to make contact with them after this long with such scary news. I certainly don’t want my aunt’s dwindling memories of her son tinted with the guilt of her passing on a disease that caused his death.”
These conversations highlight how genetic counselors navigate complex and sometimes subtle psychosocial and communication dynamics in families. I often mention different methods for helping with these dynamics. For example, I offer to provide patients with letters to forward to their relatives. Or, with a patient’s consent, I can contact the relatives directly.
The issue of how to contact relatives regarding familial risk is an ongoing area of ethical debate about the “duty to warn” relatives versus preserving their privacy and autonomy.
Ultimately, genetic counselors focus on how best to make genetic information useful and available to families, especially for life-threatening conditions like LQTS. But the same could be said for any number of familial diseases. The issue of how to contact relatives regarding familial risk is an ongoing area of ethical debate about the “duty to warn” relatives versus preserving their privacy and autonomy. Several court cases and professional organizations support the concept of others, outside the family, having the duty to warn relatives in the event that the patient fails to do so after encouragement, especially for diseases that pose immediate danger and for which risk-reducing preventions are available.
This conversation is a microcosm of the current challenges for the U.S. healthcare system and genomic medicine in the 21st century. Families and genetic service providers are faced with the waning role of family practitioners who once cared for several generations of families. They also must deal with families who are geographically fragmented by larger economic and social forces. Lastly, providers are often concerned about privacy laws and liability in a litigious environment. If we are going to maximize the value of precision genomic medicine and family-centered care, we will need healthcare professionals who confront these issues and creatively work with them. Genomic medicine providers may have to insert themselves into families, bridge the communication gaps, and become the families’ “genomic mediators.”
My appointment with members of this LQTS family also highlighted generational differences in communication preferences. My patient’s daughter, now in her 20s, chimed in: “Mom, don’t worry. I can stalk them on Facebook and send them a group invite so we can all share our genetic testing results. If that doesn’t work, then I will just email them.”
This tenacity and eagerness to embrace new modes of sharing genetic information is not uncommon in my work with families and rare diseases. I routinely discuss how social media can be a powerful tool for reconnecting distant family branches that remain intimately bound by their shared inherited genetic variation. But, being risk-averse, I also discuss privacy and the dangers of sharing potentially sensitive genetic information through an unsecured medium. If they are informed and proceed at their own discretion, I do not disrupt the momentum of my patients who are aiming to prevent tragedy in their families.
Last September, I was part of panel at a symposium at the National Society of Genetic Counselors conference in Columbus, Ohio. The discussion revolved around familial genetic testing, family risk communication, and emerging strategies to facilitate them. We discussed “direct contact” strategies, where we reach out directly to at-risk relatives with the consent of our patients.
Genomic medicine providers may have to insert themselves into families, bridge the communication gaps, and become the families’ “genomic mediators.”
Some genetic counselors at the symposium mentioned being invited to — and attending — family reunions to collect cheek swab samples. Others discussed a need to embrace technology: texting, email, internet-based telemedicine, and social media. New approaches involve the integration of genomic data into electronic health records, allowing at-risk relatives to be indirectly notified when a familial mutation has been identified. But this only works if family members are all seen within the same healthcare system and agree to have genomic information merged with their electronic records in that system. Perhaps this approach could alleviate the burden of warning relatives in families like the one in my clinic now.
Discussion of legal concerns and strategies at the symposium were ultimately interwoven with two key issues: What are the ideal approaches for patient empowerment, and how do we best mediate family risk communication? Patients usually grasp the gravity of privacy and genetic risk, but they often want communication avenues convenient for busy lives driven by technological changes and evolving communication preferences. Convenient communication strategies are often what they want most.
Three months later, my patient’s 20-year-old daughter created a family Facebook page. Several cousins were subsequently referred to genetic counselors for targeted testing of the familial KCNH2 mutation. Later, the daughter told me, “The privacy thing doesn’t concern me as much as a child dying from a preventable disease in my family. And guess what: only two people actually called or texted me back, but almost all of them responded to my Facebook message.”
When the stakes are high, I suppose I don’t mind the medium if it increases patient empowerment. Out with the old, in with the new. Perhaps that is how we are going to do this right.