Checking the “unknown” box under the family-health-history section of medical forms never bothered Brad Garland — until he had kids.
“I didn’t have any interest in knowing my birth parents,” said Garland, who was adopted from Korea at 5 months old. But when he passed on this question mark of a medical history, he began to worry there might be something lurking in his genes he needed to warn his two kids about.
Garland, an accountant in Huntsville, Alabama, discovered there was a prominent genetic-research lab in his own backyard: the nonprofit HudsonAlpha Institute for Biotechnology. Not only that, “they were having a $99 special on genetic health screenings,” Garland said. So as a Christmas gift, he asked for a screening test.
While Garland was hungry for answers, he remained pragmatic about the limitations of testing. “You’re not going to find out everything, but you may find something that you can make changes to prevent,” he said. “I always want to know the most information possible to make the best decision.”
Bioethicist Thomas May is the senior scientist on HudsonAlpha’s ethics and genomics program. In a recent article in the American Journal of Bioethics, May argued that adopted people experience health disparities because of their lack of access to genetic relatives’ health history, and suggests gene sequencing as an effective — and increasingly affordable — solution.
“What we are most concerned about is that for some people, rare but life-threatening diseases can be prevented with early screening,” May said in an interview. “There’s a health gap for this population that we can mitigate.”
But critics caution against being overly optimistic about the practical applications of genetic sequencing. Might only a very small proportion of adoptees receive useful results? What about false positives or inconclusive results? What about all the diseases we can’t test for or which have no prevention or cure?
Mark Rothstein, the founding director of the University of Louisville’s Institute for Bioethics, Health Policy, and Law, worries about the psychological distress he feels is inherent in genetic screening. Whole-genome sequencing often yields ambiguous results, or atypical findings known as “variants of unknown significance.” Rothstein says these findings have “no clinical utility,” and may needlessly upset patients.
“For some people, screening may be a source of great relief, lead them to timely medical care, or even alert them to the need for life planning,” Rothstein said. “On the other hand, it might confirm their greatest fears, lead them on unproductive diagnostic odysseys, or give them new reasons to worry.”
In general, there are a limited number of conditions where family health history has an impact. May contends that “the potential utility of family-health history lies in its lifesaving role indicating a risk that — precisely because it is rare — would be otherwise unlikely to be identified.” In the case of colon and breast cancers, for instance, knowing you are genetically predisposed can trigger earlier, more frequent screenings.
While a small number of false positives might occur, May is more concerned about false assurance: If someone gets tested for the breast cancer gene and doesn’t have it, for example, they think their risk of breast cancer is zero — but genes only account for a portion of breast cancer risk.
How doctors approach the gaps in adoptees’ health history varies widely. “Some physicians assume adopted persons have ‘everything,’ whereas others assume these family histories are unimportant if the adopted person is young and healthy,” Richard Lee, a University of Minnesota psychology professor specializing in international adoption, wrote in a commentary responding to May’s paper. But the latter approach, he argued, was the more problematic of the two: “These paternalistic reassurances neither allay anxieties, nor give adopted persons access to specialized testing unless current symptoms are present. As such, health disparities that could have been prevented with genomic screening may emerge.” He agreed that preventive interventions such as genomic screening “would go far to assuage the anxiety many adopted individuals experience at medical appointments.”
Lack of medical history is of particular significance in international adoptions, where records are often closed, inaccurate, or even falsified. This is something May has personal experience with. In the journal Pediatrics last year, May wrote about being given virtually no information on his daughter’s health during the adoption process: “[W]e were provided with little more than a photograph, and a vague statement that the child appears healthy, as the ‘medical’ portion of our information packet (the rest of the packet focused on personality, temperament, and behavioral traits). Indeed, we have no information about illnesses that run in her biological family from either side.” This experience further motivated May’s research.
But while it’s one thing for an adoptee to decide to undergo genetic screening as an adult, the genetic screening of children either before or after adoption is an ethical minefield. Rothstein says genetic screening is only ethical if it is done for the child’s benefit, and “pre-adoption genetic screening for risk assessment is ethically questionable because it treats children as commodities.”
May says that until we fully understand all the risks and benefits, his research will focus only on adults. “It’s a decision individuals need to make for themselves,” he said. As for his daughter, he’s waiting for her to decide for herself whether she wants to pursue genetic screening down the road.
Yet another issue is who should be responsible for covering the cost of genetic testing and counseling. Some insurance companies will cover the cost of genetic screening if it is deemed medically necessary by a physician, but policies vary. And while the Genetic Information Nondiscrimination Act (GINA) makes it illegal for insurance companies to use genetic information against their customers, it places the burden on the individual to demonstrate wrongdoing. Therefore, many people are understandably wary about going through their insurance to get screened.
And the act’s protections are limited: GINA does not apply to companies with fewer than 15 employees, nor does it cover people in the military or those receiving health benefits through the Veterans Health Administration or Indian Health Service. GINA also does not protect against genetic discrimination in life, disability, or long-term-care insurance decisions. Adopted persons are already considered a “population risk” in those cases; genetic information may further penalize them.
Despite these issues, many adoptees see a twofold benefit to genetic screening: Not only does it give them a fuller picture of their health, it does so without forcing them track down their biological families, a step that many may wish to avoid.
May says that in one of his focus groups, a woman expressed interest in obtaining health history information to help her make reproductive decisions. “She knew who her birth family was, but wasn’t ready to reach out and contact them yet,” May said. “Her need for health information shouldn’t push her into connecting with her birth family before she was ready. Genomic screening is a way to bypass this.”
As for Garland, he also pursued testing for purely medical reasons: “I wasn’t trying to find any long-lost third cousins, I just wanted to know more about my health risks.” Garland says he was tested for the handful of gene markers implicated in various types of cancer, and was told he was not a carrier. He even began approaching local adoption agencies to share his genetic-screening experience and advocate for fellow adoptees to get tested.
“I strongly encourage anyone — especially people who were adopted — to get screened,” Garland said. “It’s another tool that gives you more information to make better decisions.”