November 19, 2013
A letter addressed to editors of Genetics in Medicine takes issue with the recent ACMG recommendations on incidental findings. The author believes that the recommendations are premature and questionable both scientifically and ethically. He points out that the recommendations handed out by ACMG are “based on the belief(s) that the presence of these incidental findings indicates that the patient or his/her relatives will suffer future harm and that interventions are available to reduce or prevent harm”, emphasizing the insufficient evidence currently available to report these beliefs as “the standard of care”. The author believes that ACMG is rushing a mandate which encourages informing patients, or their providers, of incidental findings before the benefits, harms and costs that may result have been established. The author makes a strong case that this is not only ill-informed but as the title of the article suggests, ethically flawed. He stresses that ACMG should rather “work toward improving the reliability of sequencing in clinical laboratories, as well as toward laboratory quality control and insurance of appropriate genetic counseling, before making pronouncements on incidental findings in clinical practice”. Finally, the author reiterates that returning incidental findings in clinical practice should require a more rigorous debate, and it should be performed before recommendations that “may be introduced as evidence of the standard of care” are promulgated.
A related review published in European Journal of Medical Genetics also focused on empirical research on the ethical issues involved in delivering incidental findings. The authors of this review searched for articles covering quantitative and qualitative research on the ethical issues involved in the disclosure of incidental findings in clinical and research genetics contexts. They analysed sixteen articles, synthesizing the factors that should be taken into account during the decision-making process surrounding the disclosure of an incidental finding in a genetics context. The authors concluded that these factors include the possibility of disclosure, practical and technical factors, and various ethical factors. Finally the authors suggest the development of a decision-making tree, involving an exploration of the practical and ethical concerns raised by the studies, which they view as the “best way of handling the wide variety of both possible incidental findings and parties interested in the disclosure of incidental findings”.