Genetic Counselors’ Views and Experiences with the Clinical Integration of Genome Sequencing

Abstract

In recent years, new sequencing technologies known as next generation sequencing (NGS) have provided scientists the ability to rapidly sequence all known coding as well as non-coding sequences in the human genome. As the two emerging approaches, whole exome (WES) and whole genome (WGS) sequencing, have started to be integrated in the clinical arena, we sought to survey health care professionals who are likely to be involved in the implementation process now and/or in the future (e.g., genetic counselors, geneticists and nurse practitioners). Two hundred twenty-one genetic counselors- one third of whom currently offer WES/WGS-participated in an anonymous online survey. The aims of the survey were first, to identify barriers to the implementation of WES/WGS, as perceived by survey participants; second, to provide the first systematic report of current practices regarding the integration of WES/WGS in clinic and/or research across the US and Canada and to illuminate the roles and challenges of genetic counselors participating in this process; and third to evaluate the impact of WES/WGS on patient care. Our results showed that genetic counseling practices with respect to WES/WGS are consistent with the criteria set forth in the ACMG 2012 policy statement, which highlights indications for testing, reporting, and pre/post test considerations. Our respondents described challenges related to offering WES/WGS, which included billing issues, the duration and content of the consent process, result interpretation and disclosure of incidental findings and variants of unknown significance. In addition, respondents indicated that specialty area (i.e., prenatal and cancer), lack of clinical utility of WES/WGS and concerns about interpretation of test results were factors that prevented them from offering this technology to patients. Finally, study participants identified the aspects of their professional training which have been most beneficial in aiding with the integration of WES/WGS into the clinical setting (molecular/clinical genetics, counseling and bioethics) and suggested that counseling aids (to assist them when explaining aspects of these tests to patients) and webinars focused on WES/WGS (for genetic counselors and other health care professionals) would be useful educational tools. Future research should permit us to further enhance our knowledge of pitfalls and benefits associated with the introduction of these powerful technologies in patient care and to further explore the roles and opportunities for genetic counselors in this rapidly evolving field.

Genomic analysis in the clinic: benefits and challenges for health care professionals and patients in Brazil

“…In combination with lack of regulatory policies regarding genetic and genomic testing in the country, the lack of qualified professionals creates a permissive scenario where any physician may order genomic testing, without any proper genetic counselling. It is not uncommon that physicians with limited knowledge of clinical and molecular More efficient diagnostic work-up (time and cost benefit, especially in conditions with significant genetic heterogeneity), improved diagnostic rates Zhu et al 2015;Soden et al 2014;Jacob et al 2013;Nigro and Refinement of prognostic predictions and risk counselling Macchini et al 2014;Vrijenhoek et al 2015;Prior 2014 genetics order WGS, WES or multi-gene panels with no clear indication, no interpretation of the results and no adequate preor post-test counselling. Unfortunately, in Brazil, this scenario is not limited to genomic testing but also applies to conventional genetic testing.…”

“…This is reflected in practical terms in the proportion of different subspecialties requesting genomic testing in the clinic. In a recent report of interviews of 221 genetic counsellors in the USA, about a third of participants had already offered WES and/or WGS; among these, 52.5 % spent at least half of their time in paediatrics, contrasting to only 5 % of those in prenatal counselling and 11.25 % in cancer genetics (Macchini et al 2014). Apart from WES and WGS, genomic strategies used in the field of molecular cytogenetics (i.e.…”

Unsolicited findings of next-generation sequencing for tumor analysis within a Dutch consortium: clinical daily practice reconsidered

“…This so-called 'dynamic consent' provides additional functionality to allow ongoing engagement and maintenance of research participants' consent preferences. 10,11 Overall, the informed consent process and informed consent form should clarify the circumstances in which a patient may be re-contacted in the future. A topic for further debate is whether professionals should actively contact participants when new findings are found.…”

Compare and contrast: a cross-national study across UK, USA and Greek experts regarding return of incidental findings from clinical sequencing

“…27,[41][42][43][44][45][46] However, our clinicians expressed a preference for broad consent with a 'hint of paternalism' allowing them to make some decisions according to their professional judgment. While reflecting long-term practice, in today's world this raises the possibility of 'a potential conflict between patient autonomy and clinical paternalism'.…”