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Viewpoint |

Do It Yourself Newborn Screening

Pascal Borry, PhD1; Karine Sénécal, LLM2; Bartha Maria Knoppers, PhD2
[+] Author Affiliations
1Centre for Biomedical Ethics and Law, Department of Public Health and Primary Care, University of Leuven, Kapucijnenvoer, Leuven, Belgium
2Centre of Genomics and Policy, Department of Human Genetics, McGill University, Montreal, Quebec, Canada
JAMA Pediatr. 2016;170(6):523-524. doi:10.1001/jamapediatrics.2016.0166.
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This Viewpoint discourages the use of commercial newborn screening kits that are marketed to parents and calls for regulation.

Direct-to-consumer (DTC) genetic testing on the Internet is flourishing and now includes disease risk testing that complements health care. Direct-to-consumer genetic testing continues to raise concerns, notably about consent and counseling issues, in addition to the clinical validity and utility of the tests. Direct-to-consumer genetic testing in children adds specific issues.1 Clinical guidelines currently advocate that testing and screening minors is only recommended when established, effective, and important medical treatment can be offered or when testing provides scope for treatment that may prevent, defer, or alleviate the outbreak of disease or its consequences. This reflects the careful consideration that is usually given to genetic tests, for which special attention is paid to communication about the test and its results, the confidentiality of genetic information, the willingness of the client to make the request, and the psychosocial impact of the test results. Recently, a new form of DTC genetic tests for children has emerged that raises additional ethical issues: a supplemental newborn screening (NBS) test sold to expecting couples. Although a few companies already sell such tests, the Baby Genes service is novel in several respects (https://www.babygenes.net).

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The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
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Education and Advancement of Newborn Screening
Posted on May 2, 2016
Max Truesdel
Baby Genes, Inc.
Conflict of Interest: Baby Genes, Inc. is a privately held company based in Golden, Colorado focused on advancing newborn screening and education.
A point of clarification from Baby Genes, Inc.

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