Pd. Chapman et J. Burn, Genetic predictive testing for bowel cancer predisposition: the impact on the individual, CYTOG C GEN, 86(2), 1999, pp. 118-124
When considering the impact of a genetic diagnosis of hereditary predisposi
tion to colon cancer, there are many similarities to other predictive genet
ic tests, but also many differences. The development and availability of su
ch genetic diagnoses, and the concept of testing being linked to effective
prevention, have advanced rapidly, opening up not only unique opportunities
but also unique psychosocial situations for the affected families-and unus
ual ethical issues far the professional. Compared to a diagnosis of sporadi
c colorectal cancer for a patient, hereditary colorectal cancer requires an
understanding of genetics, heredity, and the attendant mathematics of risk
calculation, but, most importantly, there must be a belief that it is poss
ible to remain healthy whilst having an increased risk. This paper outlines
the possible impact of a genetic diagnosis of hereditary non-polyposis col
orectal cancer (HNPCC) or familial adenomatous polyposis (FAP) on both the
individual and the family and concludes that genetic testing should be acco
mpanied by genetic counseling. Relevant ethical issues are also introduced,
with the opinion presented suggesting that if primary considerations are a
lways for the individual rather than the family or society, then unethical
or eugenic decisions are likely to be avoided.