US Bioethics Commission report on incidental findings

16 December 2013

The US Presidential Commission for the Study of Bioethical Issues (Bioethics Commission) has released a new report making recommendations on the issue of incidental and secondary findings.
Anticipate and Communicate examines the dilemmas that can arise when an unexpected medical findings is made in the course of unrelated medical investigations or, increasingly, research. This is a highly topical issue as the advent of clinical whole genome sequencing reveals unprecedented scope for such incidental findings, and the report refers specifically to direct-to-consumer testing as well as clinical and research environments. Secondary findings are generally less problematic, as this refers to findings that were actively sought, albeit not as the primary purpose of investigations.
As the title suggests, the report’s key message is for clinicians to anticipate and plan responses to incidental findings so that patients or research subjects understand what to expect and receive appropriate communication if the issue arises; a shared decision-making model between clinicians and recipients is suggested in order to balance the potential risks and benefits posed by incidental findings.
Commission Chair Dr Amy Gutmann said: “The reality is that we might find out more than we bargained for. Yet practitioners are getting conflicting advice about how to manage such findings across contexts and modalities such as genetics, imaging, and biological specimen testing. We all need to know how to better manage health information we did not expect”.
Five broad recommendations about incidental and secondary findings are made in the report (in addition to more specific proposals for the different contexts examined): 
  1. Informed consent - potential recipients should be told about the possibility of findings and how they will be dealt with before testing.
  2. Categorisation of findings - professional groups should develop guidelines that set out expected categories of finding for each sort of testing and best practice for managing them.
  3. Research - funding should be provided for research into the evolving situation with respect to findings, including costs, benefits, harms and preferences.
  4. Education – efforts should be made to improve the understanding of all stakeholders about the ethical, practical, and legal considerations raised by findings.
  5. Equitable access – ensuring access to care and good quality information about findings before and after testing is essential.
Importantly, the report emphasises the right of recipients not to be informed of incidental findings if that is their choice – in sharp contrast to the ACMG recommendations released earlier this year, which said that deliberate searches should be made for secondary genomic findings with mandatory disclosure of results.
The PHG Foundation’s Realising Genomics project is examining novel or unique ethical, legal and social issues posed by clinical whole genome sequencing (WGS) and whole exome sequencing (WES) and has already released a report examining the issue of incidental findings in particular.

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