Response to Townsend et al.

To the Editor: I appreciate Townsend et al.’s thoughtful response (“Paternalism and the ACMG Recommendations on Genomic Incidental Findings: Patients Seen But Not Heard”¹) to the “ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing.”² The crux of their objection to the recommendations is that the input of consumers (or patients) was not sought as part of the process and that the recommendation that laboratories return results of specific incidental findings violates patient autonomy.

I am concerned that much of the discussion about the recommendations has been couched in terms such as “paternalism,” “patient autonomy,” “genetic exceptionalism,” etc. I worry that these words tend to polarize arguments, making things seem more black and white than I think they are.

The key point that influenced the thinking of the working group, speaking from my own perspective as a member of the working group, is that the laboratory that interprets the sequencing and generates the report is not in a position to judge whether the person whose genome is sequenced should or should not be privy to results that could have life or death implications. We believe that this is the job of the clinician who has ordered the sequencing, who can take into account the perspectives and needs of his or her individual patient.

The analogy of reporting incidental findings from radiological studies is frequently cited in the context of the American College of Medical Genetics and Genomics recommendations.² It is an imperfect analogy; incidental findings sometimes jump out at the radiologist and may be difficult to consciously ignore. I have not heard arguments, however, that reporting such incidental findings in radiology violates patient autonomy and suspect that consenting all patients in advance who are about to have X-rays or other radiological studies would be viewed as impractical. Townsend et al.¹ make the point that incidental radiological findings indicate disease that is currently present, whereas incidental genomic findings indicate disease that may some day be present. In fact, some of the radiological incidental findings do not diagnose disease; some are false positives that could lead to unnecessary invasive procedures. The time to discuss such incidental findings in radiology is when the clinician receives the radiology report, and is able to interpret the report in light of the patient’s clinical status, personality, and life experience. I posit that the same is true for genomic incidental findings, recognizing that the American College of Medical Genetics and Genomics recommendations apply to a very narrow list of highly penetrant, well-annotated, and medically actionable findings.

Townsend et al.¹ also raised the point that the working group did not seek input from consumers (patients). This possibility was considered, but it was difficult to know who actually speaks for the general public on this issue. We ultimately decided to begin the discussion with input from scientific and medical experts, realizing that the recommendations would serve as a reference point for many perspectives. Townsend et al.¹ suggest that the recommendations be withdrawn and revised. I do not believe that they should be withdrawn, but as we stated in the report, I anticipate that they will be refined and revised in response to additional input and evidence. I especially agree with them that further research on patient perspectives and decision making should be encouraged. The working group felt, however, that genome sequencing is here with us now and that some statement was needed to provide a guideline to laboratories and clinicians actively struggling with this question. I hope that the recommendations will come to be seen in that light.

Disclosure

The author declares no conflict of interest.