Genetic counselling, patient education, and informed decision-making in the genomic era
Introduction
Principles of any population genetic screening programs recognize the voluntary nature of the test and emphasize the importance of “information about the purpose of the test, possible outcomes and potential choices to be made” [1]. Genetic information is typically complex and, especially in the context of prenatal screening for reproductive options, requires effective communication, explanations, and support to facilitate informed decision-making by women and couples. These fall within the remit of genetic counselling.
Section snippets
Historical perspective
Genetic counselling was first described by Sheldon Reed, a medical geneticist, in the 1970s [2], who emphasized the psychological element of genetic counselling. At that time, early genetic counsellors were mostly PhD genetic scientists and medical physicians and their role mainly involved taking family history and calculating risk of having a child with a genetic condition. As genetic testing became available, the definition of genetic counselling has evolved, as has the profession of genetic
Informed decision-making in prenatal screening
Guidelines for genetic screening [1] recommend that ethical and psychosocial impacts of screening are evaluated and that informed choice, together with an opportunity to deliberate about the choice (i.e., the decision-making process, rather than the choice per se), should be assessed. A systematic review of early studies about genetic screening in pregnancy, primarily for Down syndrome, and single gene carrier status (mostly for cystic fibrosis), found that women's understanding of screening
Counselling challenges with cell-free DNA prenatal testing
cfDNA testing, currently recommended as a prenatal screening (rather than diagnostic) test for chromosomal conditions [10], is now offered in more than 90 countries [15]. The speed at which it has been taken up by women has been remarkable, especially given the commercial nature of the test in most countries and the out-of-pocket costs to women depending on the extent of coverage by private health insurance, which is highly variable. On the other hand, the lower false-positive rate compared
Reproductive carrier screening
Population-based carrier screening for a number of single gene conditions or a small panel of genes for more prevalent autosomal recessive or X-linked conditions, either preconceptionally or during pregnancy, has been the subject of research for several decades [39]. Many studies have shown general support for carrier screening for cystic fibrosis, haemoglobinopathies, spinal muscular atrophy, fragile X syndrome, and Tay–Sachs disease [39], especially in populations in which carrier frequencies
Health/genetic literacy of patients and health providers
For women and couples to make informed decisions about cfDNA prenatal screening and ECS, not only do patients need to understand the possibilities and limitations of the tests, but also their healthcare providers who are offering and discussing these. Several recent reviews discuss the need for education of health professionals, especially those who are non-genetic specialists [16], [20], [41]. Of particular concern is the reliance on commercially produced informational and consent materials,
Patient education and counselling: use of multimedia decision-aids and e-learning tools
Whereas pre-test counselling for prenatal and ECS screening is recommended and should be performed by a health professional, the challenge is how to balance complexity and the time involved with sufficient opportunity to have a meaningful dialogue. Of course, there are additional modalities to enhance and support the one-on-one, face-to-face counselling, and many of these have been used in traditional reproductive screening, such as group education, telemedicine, educational pamphlets, videos,
Conclusion
Previous studies have shown that many women and couples have not made informed decisions with respect to traditional reproductive genetic screening, and this is likely to be exacerbated with the rapid introduction of new genomic technologies. Pre-test counselling and access to unbiased, accurate information is critical to facilitate autonomous informed decision-making – the fundamental goal of screening for reproductive choices. Healthcare professionals providing pre-test counselling should
Conflicts of interest
None declared.
Funding sources
None.
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2021, Genetics in MedicineCitation Excerpt :Additionally, couple-based ECS stimulates joint decision making and agreement on counseling and testing.6 The prior probability of being a carrier couple for a condition included in this test in the Dutch general population is approximately 1 in 150.12 As with any new screening test, it is important to weigh the potential harms and benefits before deciding to offer it to the eligible population.2,7
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2020, Asian Nursing ResearchCitation Excerpt :Other studies have also found that women tend to only discuss NIPT advantages [21,39]. Professional society recommendations that the genomic technologies are the most sensitive screening option for common trisomy 13, 18, and 21 [18,19], there will likely be an increase in the demands for the cfDNA [41]. However, false positives are possible [9,19].
Negotiating risk and choice in multifetal pregnancies
2020, Social Science and MedicineCitation Excerpt :The lack of perceived support, and possible sense of failing to live up to expectations of ‘motherhood,’ for such decisions may explain why practitioners recommend parents be provided with psychological support following pregnancy reductions (Boulot et al., 2000). Most health practitioners and researchers believe it is only by discussing client's values within the counseling process that client autonomy can be encouraged (ACOG Recommendations, 2017; Metcalfe, 2018). However, for health practitioners, there is a thin line between providing a choice and coercing the client for prenatal screening and later fetal reduction, should the tests suggest an abnormality (William et al., 2002a).