Genomic Screening: What’s Age Got To Do With It?

By Margaret Waltz, PhD, R. Jean Cadigan, PhD, Anya E. R. Prince, JD, MPP, Debra Skinner, PhD, and Gail E. Henderson, PhD

Age is an important consideration in medical screening, but calls for population based preventive genomic screening programs do not mention an upper age limit. Should such programs employ upper age limits, as occurs in other clinical screenings, on the assumption that older individuals would not benefit clinically? To address this question, our Genetics in Medicine paper analyzed data from GeneScreen, a research study of preventive genomic screening aimed at adults. We focused on how the researchers who designed the study and 50 individuals who joined the study understood and valued age in relation to screening.

GeneScreen used a screening panel of 17 genes associated with 11 rare conditions for which treatment and/or prevention options were available, like Hereditary Breast and Ovarian Cancer, Lynch Syndrome, and Long QT Syndrome. GeneScreen researchers initially suggested an upper age limit, reflecting the assumption that older individuals were unlikely to clinically benefit from the results. One clinician worried that without an upper age limit, GeneScreen might reinforce the desire for screening among older adults and the misconception that screening “does a lot of good when you’re 80.” This was reconsidered when they discussed familial benefit. As one researcher said, participation “might not actually save the 80-year-old that we test, but [it] could save his grandchildren.” The recognition of familial benefit motivated the decision to not exclude adults based on age.

GeneScreen participants of all ages had similar responses when asked about the possible benefits of participating, including advancing science, helping other people, familial benefit, prevention or treatment of GeneScreen conditions, and gaining peace of mind if the results were negative. When asked “Do you see any possible benefits to you personally or for your family of joining the study?”, some older individuals (60 and up) did not think they would personally benefit because of their age. As one stated, “Not for me personally. You know, I’m 60 years old.” Yet other older participants offered opposing views about personal benefit, suggesting that information from GeneScreen could prolong their life. One commented, “On a more selfish side, I’m curious about my own structure, and although I’m 85 now, maybe there are some things I can do to prolong my life.”

Participants of all ages noted the same risks of joining GeneScreen, including discrimination and the potential for worry. But, compared to younger participants, those who were older thought their risks for insurance or employment discrimination were lower. These were mitigated by Medicare coverage, previously purchased life insurance, and the fact that they were close to or already retired. Older individuals were also less concerned about possible worries related to GeneScreen results. As one explained, “I know some people don’t want to find out something because then they think they’ll worry about it…But maybe cause of my age—I am 75—I’m like, ‘Hey. Whatever. I’ll shoot for the moon.’”

As preventive genomic screening enters clinical settings, will practice recommendations suggest upper age limits? Clinical evidence of the benefits and risks of screening are traditionally based on chronological age. Our exploration of perceived benefits and risks introduces the social value of screening for older adults. Social understanding of age is an underappreciated factor at play in how genomic screening programs are designed and offered, and in motivations to participate. We propose that this factor be recognized, in conjunction with evidence of clinical utility based on chronological age, as genomic screening programs are developed.