28 November 2016
Embryology, IVF and Reproductive Genetics Group, Institute for Women's Health, University College LondonAppeared in BioNews 879
Washington State Department of Health
When it comes to prenatal genetic testing and screening, informed consent is crucial. With increasing time constraints on healthcare providers, patients can be left with unanswered questions. Are enough resources available to cater for the multitude of queries that testing can elicit, as well as from the results themselves?
Washington State Department of Health has acknowledged that, although state law requires doctors and testing providers to share information with patients, there is not always enough time to do this properly. So they have created seven YouTube videos designed to help patients make decisions around prenatal genetic testing and screening.
The videos range in subject from decision making, the conditions commonly tested for during pregnancy, to the individual testing and screening options available. They are illustrated in hand-drawn cartoons that cleverly depict each topic and option. This is an effective means of displaying information in a digestible manner, as each method of screening is visualised with its accompanying potential outcomes.
The first video addresses the crucial process of decision making. It lays out the options available and their consequences and, most importantly, reminds the viewer throughout that the decision is theirs. This video provides an overview of several prenatal screening options: prenatal cell-free DNA screening (cfDNA screening), maternal serum screening (MSS) and prenatal ultrasound. It also covers two prenatal testing options: amniocentesis and chorionic villus sampling (CVS). Rather than simply providing information with the expectation that the decision will be made at the end, the video asks and restates important questions throughout, such as how a potential risk might make the viewer feel, or how the result of a test make them feel differently. This is a powerful way of presenting all information as a choice that reflects back to the viewer – a reminder of what should be asked at each stage of the decision-making process.
The second video looks into the conditions that are commonly tested for during pregnancy. It outlines common birth defects, including structural and neural tube defects, and chromosomal conditions. Photographic images are presented of each condition mentioned, though perhaps with a more favourable view of some conditions that does not convey the potential severity and the health risks to the infant. For example, anencephaly is described as 'a more severe, life-limiting neural tube defect' with a picture of an anencephalic baby wearing a hat, which covers the malformed skull. This seems an unrealistic description for a defect where, in the majority of cases, the baby will die in childbirth or during the pregnancy. A similar description is given to trisomies 13 and 18, stating that 'both of these conditions are associated with life-limiting medical complications'. Such understatements could crucially affect a person’s decision making process. In trisomy 18, roughly 50 percent of babies will generally not survive beyond the first week and only 5–10 percent will survive the first year. In fact, a study looking at survival rates in England and Wales from 2004 to 2001, showed the median survival time for babies born with full trisomy 18 or with full trisomy 13 to be 14 and 10 days respectively. Morbidity is dealt with very differently during early pregnancy than at term, so realistic survival rates should not be softened or hidden from the viewer.
Thereafter, the remaining videos in the series provide information on the specific tests or screens currently available. Each provides adequate information about how a test is performed and what is being looked for. The limitations of the test or screen, benefits to the patient, and the potential drawbacks are mentioned throughout. The viewer is reminded that not all tests are accurate, and that not all conditions can be tested for.
Interestingly, when specific familial genetic disorders are mentioned, the viewer is prompted only to speak with their healthcare provider or a genetic counsellor for more information. No mention of preimplantation genetic diagnosis options is made.
With the decision of the UK government to approve the use of noninvasive prenatal testing (NIPT) for trisomies 21, 18, and 13 (as part of an existing prenatal screening program), videos such as these would be hugely beneficial for prospective parents. Currently the NHS Rapid project website contains only pages of descriptions and very brief (30 second to one minute) videos of clinical scientists and research midwives speaking around the area.
Prenatal testing and screening is a sensitive matter, and this can be a very difficult time for expectant parents. Displaying information in a clear and concise manner is essential to the implementation of true informed consent. Giving the patient such information from the comfort of their own home is a step in the right direction.