“I think we’ve got too many tests!”: Prenatal providers’ reflections on ethical and clinical challenges in the practice integration of cell-free DNA screening

Abstract

Background The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes. Since the introduction of cfDNA screening into practice in 2011, the uptake and scope have increased dramatically. Prenatal care providers are under pressure to stay up to date with rapidly changing cfDNA screening panels, manage increasing patient demands, and keep up with changing test costs, all while attempting to use the technology responsibly and ethically. While clinical literature on cfDNA screening has shown benefits for specific patient populations, it has also identified significant misunderstandings among providers and patients alike about the power of the technology. The unique features of cfDNA screening, in comparison to established prenatal testing technologies, have implications for informed decision-making and genetic counselling that must be addressed to ensure ethical practice. Objectives This study explored the experiences of prenatal care providers at the forefront of non-invasive genetic screening in the United States to understand how this testing changes the practice of prenatal medicine. We aimed to learn how the experience of providing and offering this testing differs from established prenatal testing methodologies. These differences may necessitate changes to patient education and consent procedures to maintain ethical practice. Methods We used the online American Congress of Obstetricians and Gynecologists Physician Directory to identify a systematic sample of five prenatal care providers in each U.S. state and the District of Columbia. Beginning with the lowest zip code in each state, we took every fifth name from the directory, excluding providers who were retired, did not currently practice in the state in which they were listed, or were not involved in a prenatal specialty. After repeating this step twice and sending a total of 461 invitations, 37 providers expressed interest in participating, and we completed telephone interviews with 21 providers (4.6%). We developed a semi-structured interview guide including questions about providers’ use of and attitudes toward cfDNA screening. A single interviewer conducted and audio-recorded all interviews by telephone, and the interviews lasted approximately 30 minutes each. We collaboratively developed a codebook through an iterative process of transcript review and code application, and a primary coder coded all transcripts. Results Prenatal care providers have varying perspectives on the advantages of cfDNA screening and express a range of concerns regarding the implementation of cfDNA screening in practice. ...

Facilitating informed choice about non-invasive prenatal testing (NIPT): a systematic review and qualitative meta-synthesis of women’s experiences

“…In addition to increased education for providers, allocating more time to counselling may improve informed choice. Studies of women and clinicians identified strong consensus that consultations did not provide sufficient time for thorough counselling [30, 48, 87]. Some women found that their counselling session was too short for the volume of information they were presented with, and as a result felt overwhelmed [67].…”

“…What are their preferences for the facilitation of informed choice? There is a burgeoning amount of empirical literature [44–48] about the challenges of informed decision making about NIPT. The purpose of this review is to bring together this collection of primary research to comment on women’s perspectives, experiences, and preferences for informed decision making about NIPT.…”

Women’s perspectives on the ethical implications of non-invasive prenatal testing: a qualitative analysis to inform health policy decisions

“…Our participants’ enthusiasm for an expanded offer of NIPT contrasts with existing ethics literature detailing the numerous reasons why an expanded offer may not be prudent. One caution widely present in the literature is that an expanded offer of NIPT to all women challenges the ideal of informed decision-making because of persistent misunderstandings of accuracy, a lack of time for counselling, sparse availability of counselling specialists, and the potential that the procedurally-simple test could be easily routinized [ 15 , 41 , 42 , 48 , 51 , 62 – 65 ]. Additional arguments in the literature against expanding the offer of NIPT to all women include: the evidence base in normal-risk women was established only recently, the private-pay nature of the test may discriminate in access, quality assurance measures are not widely in place, and primary prenatal care providers may not have the time or expertise available to offer NIPT more widely [ 15 , 41 , 42 , 48 , 62 – 64 ].…”

Obstetrical provider knowledge and attitudes towards cell–free DNA screening: results of a cross-sectional national survey

“…These studies have identified deficiencies in the current model that we use to counsel patients providing possible targets for future improvement in the knowledge translation process. For example, in a recent study looking at the US prenatal providers’ reflections on cfDNA screening, providers felt they did not have enough time to adequately counsel and educate patients and that they needed additional education about cfDNA screening which would preferably come from sources like professional societies, labs, and publications [ 27 ]. Palomaki et al recently assessed the experience of the obstetrical care providers, as well as the 2691 women that cfDNA screening was offered to [ 28 ].…”