Attitudes to predictive DNA testing in familial adenomatous polyposis.

Abstract

Attitudes to predictive DNA testing for familial adenomatous polyposis were documented in 62 affected adults. Patient views on prenatal testing and termination ofpregnancy for this disorder were sought, as were opinions on the most suitable age to offer predictive testing for at risk children and the most appropriate age to begin screening. While 15 (24%) of those questioned stated that they would proceed to termination of pregnancy if a prenatal test indicated that the unborn baby was affected, in clinical practice no one has yet requested this option. Six (10%) people who had refrained from having children for fear ofpassing on the polyposis gene felt that the arrival of prenatal testing would enable them to consider planning a family. The majority of patients (93%) said they would like their children tested by DNA analysis at birth or in infancy, but felt that 10 to 12 years was the most appropriate time to discuss the diagnosis with the child. (J Med Genet 1996;33:540-543)

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

“…20 The majority of individuals did not consider pregnancy termination as a viable option for FAP. Only 14% of FAP patients indicated that this was acceptable, as compared with 24% in the study by Whitelaw et al 10 The percentage of individuals with a FAP diagnosis in this study who had a positive attitude toward PND and PGD (33 and 30%, respectively) was much lower than that reported in two earlier studies. In these studies, 65 10 and 95% 9 of individuals were found to be positively inclined toward PND, and 90% toward PGD.…”

“…Only 14% of FAP patients indicated that this was acceptable, as compared with 24% in the study by Whitelaw et al 10 The percentage of individuals with a FAP diagnosis in this study who had a positive attitude toward PND and PGD (33 and 30%, respectively) was much lower than that reported in two earlier studies. In these studies, 65 10 and 95% 9 of individuals were found to be positively inclined toward PND, and 90% toward PGD. 9 Two studies among women at risk for hereditary breast and ovarian cancer found that 36 and 57% of individuals had a positive attitude toward PGD, 18,19 whereas a third study reported that only 13% of BRCA1/2 carriers had a positive attitude toward PGD.…”

“…Whitelaw et al 10 reported that almost all individuals would like to have their children tested at birth. Adolescence is generally seen as a particularly vulnerable period, so one could argue for performing DNA testing either during childhood or during young adulthood.…”

“…Two studies among FAP patients reported that acceptability of both childhood testing and reproductive techniques such as PND and PGD are high, although not many would proceed to termination of pregnancy. 9,10 These previous studies had several limitations, sample sizes were typically small, and only affected individuals 9,10 were investigated. Also, the study of Whitelaw et al 10 was performed before predictive genetic testing and PGD were readily available, thus making their results less relevant for the current FAP population.…”

Clinical and ethical implications of genetic counselling in familial adenomatous polyposis

“…Parents should know the results of genetic tests a few minutes before their children, with the aim of having an opportunity to control their emotions and avoid alarming the child unnecessarily. In a survey carried out on adult patients with FAP (20), 93% said that they would have liked their children to have been offered the genetic test at birth or during infancy, indicating that an age between 10 and 12 years was ideal to start introducing the concept of FAP. In our experience, in the majority of cases parents do not want their children to have the genetic test until diagnostic or therapeutic measures are needed.…”