The term genetic disease came about as molecular biologists recognized that increasing numbers of medical diagnoses had a genetic basis. The term is not simply another type of diagnosis, it inherently implies relationships. By its nature, it identifies a problem in one person but at the same time labels biologically related relatives (Armstrong, Michie, and Marteau 1998). It implies a certain lack of health and carries with it an innate uncertainty about and lack of control over one’s future health. Further, it carries a social vulnerability in medical, employment, and other public contexts. Finally, the term is value-laden, reflecting our understanding and lived experiences of a disease based on information garnered from a very personal social context impregnated by the media and experiences of friends and family members with the disease.

Kenen (1996), a sociologist and anthropologist, has explored the concept of at-risk health status in depth. She notes that the term evolved from public health in the 1970s in response to efforts to medicalize such normal processes as pregnancy and childbirth (e.g., high-risk pregnancy). Once an at-risk health status was diagnosed, “patients” (in this case, healthy pregnant women) were expected to conform to “specific behavior patterns and norms” (1545), including prescriptions for prevention. Ultimately, the prescribed behaviors became standardized, then institutionalized, and at last they became social norms promoted by healthcare practitioners as well as society.

Kenen describes the at-risk diagnosis as a “gift of knowing” offered under the auspices of a belief that knowledge is intrinsically good and enables patients to make more informed decisions. But she also acknowledges a number of downsides: an at-risk diagnosis may merely affirm risk and offer no cure, it may label a patient so that society sets specific expectations for one’s behavior (e.g., informing other at-risk relatives, avoiding disease causing factors), or it may foster self-blame, stigmatize, or set up the expectation that one is obliged to undertake certain disease-prevention behaviors. In addition, by the nature of risk-based diagnoses (diagnoses based on extrapolating population risk to individuals), disease certainty is ambiguous and uncertain. As such, it can set up individuals for the perception that they have a chronic illness. This seems especially important in adult onset conditions wherein disease expression is not anticipated until later in life (if at all), leaving patients constantly on alert for symptoms.

Though Kenen’s article was written just as the genetics of common inherited adult-onset disorders was being introduced into clinical practice, she did accurately predict many of the public, medical, and institutional responses that we have seen develop over the past decade. Take for example the case of inherited breast and ovarian cancer. Once the offending gene mutations were identified in the mid 1990s, a cascade of discoveries in patient care followed. Predictive gene tests were identified, the diagnostic genetic technology was patented, and high-risk cancer genetics clinics proliferated. Insurance reimbursement for genetic counseling and gene testing was solicited and won. Practice standards for gene testing and lifelong prevention and surveillance behaviors (including regular check-ups, screening tests, and prophylactic operations) were published. In the 1990s, national high-risk cancer genetics registries evolved to facilitate further basic and behavioral research (Anton-Culver, Ziogas, Bowen, et al. 2003). Today, primary care providers recommend standardized practice guidelines for long-term surveillance, and at-risk status for inherited breast and ovarian cancer is treated as a chronic illness.

An important problem associated with treating healthy individuals as if they have a chronic illness is that busy providers may concentrate solely on issues relevant to the genetic disease (e.g., updating pedigrees and prescribing and tracking disease surveillance in the form of more frequent clinical breast exams, pelvic exams, mammograms, ultrasounds)—in essence looking for disease. As evidence for this genetic disease/chronic disease focus, a recent analysis of 23 studies on the screening behaviors of women with an inherited risk for breast or ovarian cancers found no evidence for medical attention to or concern for prevention or screening behaviors related to other chronic adult conditions such as cardiovascular disease, diabetes, or osteoporosis (Olsen, unpublished dissertation).

Of further concern are studies of physician practices that suggest patients with chronic diseases tend to receive limited or no counseling or direction regarding health promotion, disease prevention, or screening (Rost, Nutting, Smith, et al. 2000; Redelmeier, Tan, and Booth 1998; Chernoff, Sherman, et al. 1999; Klinkman 1997). Other data suggest that widespread media coverage of topics related to breast cancer (compared with limited attention to cardiovascular disease) has sensitized women to the extent that they may place undue emphasis on breast cancer risk. By the same token, they may ignore health risks associated with other more common complex disorders such as cardiovascular disease, the number one cause of mortality in women (Blanchard, Erblich, Montgomery, and Bovbjerg 2002; Legato, Padus, and Slaughter 1997; Mosca et al. 2000; Erblich, Bovbjerg, Norman, et al. 2000).