Adolescents, Family History, and Inherited Disease Risk: An Opportunity.

Abstract

A teenager recently presented to my clinic for a well visit, accompanied by his mother. He had no complaints, and his examination was unremarkable, but a family history revealed familial adenomatous polyposis in his mother; a recent genetic test had identified her causal mutation. Despite his risk of heritable, early-onset colon cancer (and his desire to know whether he carried the same mutation as his mother) the boy had not yet been evaluated. As I scheduled him for subspecialty follow-up, I considered what had occurred at this primary care visit: Simple questions about family medical history in the presence of a parent had revealed a potential disease risk in the boy and his future children, had suggested testing and surveillance to clarify and reduce this risk, and had empowered him to think about and participate in his own health care. To know one’s own family health history is a valuable commodity; it holds clues to disease predisposition both for an individual and for his or her children. Learning about one’s own early childhood medical history is similarly important. Despite evidence endorsing iterative collection of family history over time,1 it is discussed at a minority of established patients’ well visits to generalist physicians,2 suggesting the need for guidance as to when family health history should be ascertained. The aforementioned vignette illustrates that the teenage years are an ideal time for family and personal health history to be imparted and discussed. Teenagers are old enough … Address correspondence to Philip M. Boone, MD, PhD, Boston Children’s Hospital, 300 Longwood Ave, Boston, MA 02115. E-mail: philip.boone{at}childrens.harvard.edu