Adapting Genetic Counseling Training to the Genomic Era: More an Evolution than a Revolution

Excerpt

Genetic counselors, like other healthcare professionals, are continually challenged to keep abreast of up-to- date, evidence-based information regarding their practice. In particular, we are tasked with trying to keep pace with technological advancements in genomics. Without a doubt, the content covered in our graduate and continuing education curriculum with regard to genetic screening and testing has significantly changed over time. In 20 years, we have seen maternal serum screening for aneuploidy transition from a single analyte second trimester blood test to a multi-analyte first and/or second trimester test that can include a nuchal translucency measurement to DNA-based non-invasive prenatal screening. We have seen cytogenetic analysis move beyond the identification of aneuploidies and large structural defects to comprehensive chromosomal microarray analyses. Testing for relatively common single gene disorders like Fragile X syndrome, Huntington disease, and cystic fibrosis has changed dramatically. Furthermore, gone are the days of having to wait months for the results of the Sanger sequence analysis of a single gene. Now, next-generation panel tests can provide a plethora of information in just a few short weeks. The introduction of each of these technological advances required adjustments to our genetic counseling curriculum and continuing education programs. But one of the strengths of our profession is that we are trained in fundamental core genetic counseling competencies that can be applied across diverse practice settings and readily adapted to changes in practice brought forth by new technologies. As a result, even in the face of these rather significant changes, the four domains that define the competencies of genetic counselors: genetics expertise and analysis; interpersonal, psychosocial, and counseling skills; education; and professional development and practice (Accreditation Council of Genetic Counseling 2013a, b) have remained largely the same. …