Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world.

Direct-to-consumer (DTC) genetic testing emerged in the early 2000s as a means of allowing consumers to access information on their genetics without the involvement of a physician. Although early models of DTC were popular with consumers, they were controversial in medical and regulatory circles. In this article, we trace the history of DTC genetic testing, discuss its regulatory implications, and describe the emergence of a new hybrid model we call DTC 2.0.

Noninvasive prenatal genetic testing is becoming available worldwide—particularly in low- and middle-income countries—but practical and ethical challenges must be overcome.

Objective To provide a preliminary assessment of obstetric healthcare provider opinions surrounding implementation of cell-free fetal DNA testing. Methods A 37-question pilot survey was used to address questions around the translation and use of non-invasive prenatal testing using cell-free fetal DNA. The survey was distributed and collected at a Continuing Medical Education course on obstetrics and gynecology. Results Of 62 survey respondents, 73% are female and 87% hold MD/DO degrees. Respondents generally agree that patients want prenatal diagnostic information to help make decisions about a pregnancy and that cell-free fetal DNA testing will encourage the testing of more patients for more conditions. However, there is an overall lack of knowledge or conviction about using this technology. Genetic counseling and professional society approval are deemed important to implementation whereas the possibility of direct-to-consumer testing and government regulation produce mixed responses. Respondents indicate that they are more likely to offer cell-free fetal DNA testing for chromosomal abnormalities and single-gene disorders, but are cautious with respect to determination of sex and behavioral or late-onset conditions. Conclusion Preliminary assessment indicates uncertainty among obstetric providers about the details of implementing cell-free fetal DNA testing and suggests expanded research on perspectives of this stakeholder group.

Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the analysis of cell-free fetal DNA became commercially available in 2011. The low false-positive rate of NIPT, which reduces unnecessary prenatal invasive diagnostic procedures, has led to broad clinician and patient adoption. We discuss the ethical, legal, and social issues raised by rapid and global dissemination of NIPT. The number of women using NIPT is anticipated to expand, and the number of conditions being tested for will continue to increase as well, raising concerns about the routinization of testing and negative impacts on informed decision making. Ensuring that accurate and balanced information is available to all pregnant women and that access to NIPT is equitable will require policy guidance from regulators, professional societies, and payers. Empirical evidence about stakeholders' perspectives and experiences will continue to be essential in guiding policy development so that advances in NIPT can be used effectively and appropriately to improve prenatal care.

Objective(s)To determine how adults in the United States (US) view non-invasive prenatal testing using cell-free fetal DNA (cffDNA testing) in order to help estimate uptake.Study DesignA national sample of 1,861 US-based adults was surveyed using a validated online survey instrument. The survey was administered by a commercial survey research company. Respondents were randomized to receive a survey about prenatal testing for trisomy 13 and 18 or trisomy 21. Participants were asked to select among testing modalities, including cffDNA testing, and rank the features of testing that they considered most important to decision making.ResultsThere was substantive interest in the use of cffDNA testing rather than traditional screening mechanisms with a minority of respondents reporting that they would support the use of both methods in combination. The lower rates of false negative and false positive test results and the ability to use the test earlier in the pregnancy were the most highly rated benefits of cffDNA testing. Participants expressed strong support for diagnostic confirmation via invasive testing after a positive result from either screening or cffDNA testing. However, almost one-third of participants reported that they would not endorse the use of either invasive or non-invasive prenatal testing.Conclusion(s)There appears to be support for uptake of non-invasive prenatal tests. Clinical guidelines should therefor go forward in providing guidance on how to integrate non-invasive methods into current standard of care. However, our findings indicate that even when accuracy, which is rated by patients as the most important aspect of prenatal testing, is significantly improved over existing screening methods and testing is offered non-invasively, the number of individuals who reported that they would decline any testing remained the same. Attention should therefor be directed at ensuring that the right of informed refusal of prenatal testing is not impacted by new, non-invasive methods.

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Objective To provide an ethical framework for clinicians and companies providing non-invasive prenatal testing using cell-free fetal DNA or whole fetal cells. Method In collaboration with an NIH-supported research ethics consultation committee, together with feedback from an inter-disciplinary group of clinicians, members of industry, legal experts and genetic counselors we developed a set of best practices for the provision of non-invasive prenatal genetic testing. Results Principal recommendations include the amendment of current informed consent procedures to include attention to the non-invasive nature of new testing and the potential for a broader range of results earlier in the pregnancy. We strongly recommend that tests should only be provided through licensed medical providers and not direct-to-consumer. Conclusion Prenatal tests, including new methods using cell-free fetal DNA, are not currently regulated by government agencies and limited professional guidance is available. In the absence of regulation, companies and clinicians should cooperate to adopt responsible best ethical practices in the provision of these tests.