Sunday, June 20, 2010

Genetic counseling leads to father’s death and son's life long guilt

As soon as genetics solves one problem, others appear. You might think that the application of science to medicine is an undisputed boon. Petty has provided a compelling counter-example.

A man with Adult Polycystic Kidney disease due to an APKD1 mutation is in end-stage renal failure. A transplant from a matched, living, related, unaffected donor is highly desired. There is a 50:50 chance of passing on the APCD gene to his children. There are problems in his family, but he somehow persuades his adult children to have genetic testing to see if there are eligible donors. Each is apparently happy to donate a kidney to his/her father.

A can of worms is opened when 1 son realizes that he is the only child who can offer a good match. His brother is carrying the same mutation as his estranged father. The eligible son would rather save his kidney to help his brother than his father. Old animosities resurface and the family is in turmoil.

How will you feel if the father dies of a complication of dialysis, and both his sons feel guilty forever? We should not be too surprised at all this. Often in medicine bad comes out of our good intentions.

How can you good outcome out of bad?

By remembering this example and not doing tests lightly and by making genetic counseling as professional as possible. So that the complications can be foreseen and disasters can be pre-empted. Furthermore, don’t have unreasonable expectations about what genetic counseling can do. The number of diseases being found to have a significant genetic component is increasing faster than geneticists can formulate rational guidelines for screening.

Source: Oxford handbook of clinical medicine