Call for prudence in whole-genome testing.

In their Policy Forum “Patient autonomy and incidental findings in clinical genomics” (31 May, p. [1049][1]; published online 16 May), S. M. Wolf et al. criticize the American College of Medical Genetics and Genomics (ACMG) for giving up on well-established principles of patient autonomy and informed consent. Like Wolf et al. , the European Society of Human Genetics (ESHG) recently called for more prudence ([ 1 ][2]). The ACMG presents diagnostic testing based on whole-genome sequencing as an opportunity for screening. The ESHG position is more narrow: Whenever possible, such testing should be targeted to genome regions linked to the patient's indications. Wider testing requires justification in terms of necessity. Adding screening targets to a diagnostic test violates the necessity criterion. Imposing this extra testing on patients who need an answer to their clinical problem is at odds with respect for autonomy. As stated by Wolf et al. , people have a right to decline testing on the basis of their own assessment of burdens and benefits. With regard to reporting unsolicited findings, the ESHG does acknowledge that the patient's “right not to know” may sometimes have to give way to professional responsibilities. The patient may not have foreseen and considered a specific finding, and in some cases the physician has a moral duty to warn the patient's close relatives. Where testing of children is concerned, the child's best interest may supersede the parental “right (not) to know” ([ 2 ][3]). Pending further debate, we urge a more cautious attitude specifically including the patients' and physicians' perspectives. 1. [↵][4] 1. C. G. van El 2. et al ., Eur. J. Hum. Genet. 21, 580 (2013). [OpenUrl][5][PubMed][6] 2. [↵][7] 1. W. Dondorp, 2. B. Sikkema-Raddatz, 3. C. de Die-Smulders, 4. G. de Wert , Hum. Mutat. 33, 916 (2012). [OpenUrl][8][CrossRef][9][PubMed][10] 3. The authors are writing on behalf of the European Society of Human Genetics Public and Professional Policy Committee. [1]: /lookup/doi/10.1126/science.1239119 [2]: #ref-1 [3]: #ref-2 [4]: #xref-ref-1-1 "View reference 1 in text" [5]: {openurl}?query=rft.jtitle%253DEur.%2BJ.%2BHum.%2BGenet.%26rft.volume%253D21%26rft.spage%253D580%26rft_id%253Dinfo%253Apmid%252F23676617%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [6]: /lookup/external-ref?access_num=23676617&link_type=MED&atom=%2Fsci%2F341%2F6149%2F958.2.atom [7]: #xref-ref-2-1 "View reference 2 in text" [8]: {openurl}?query=rft.jtitle%253DHuman%2Bmutation%26rft.stitle%253DHum%2BMutat%26rft.aulast%253DDondorp%26rft.auinit1%253DW.%26rft.volume%253D33%26rft.issue%253D6%26rft.spage%253D916%26rft.epage%253D922%26rft.atitle%253DArrays%2Bin%2Bpostnatal%2Band%2Bprenatal%2Bdiagnosis%253A%2BAn%2Bexploration%2Bof%2Bthe%2Bethics%2Bof%2Bconsent.%26rft_id%253Dinfo%253Adoi%252F10.1002%252Fhumu.22068%26rft_id%253Dinfo%253Apmid%252F22396320%26rft.genre%253Darticle%26rft_val_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Ajournal%26ctx_ver%253DZ39.88-2004%26url_ver%253DZ39.88-2004%26url_ctx_fmt%253Dinfo%253Aofi%252Ffmt%253Akev%253Amtx%253Actx [9]: /lookup/external-ref?access_num=10.1002/humu.22068&link_type=DOI [10]: /lookup/external-ref?access_num=22396320&link_type=MED&atom=%2Fsci%2F341%2F6149%2F958.2.atom