Recent Publications

Clinic notes, patient letters, and results summaries! Oh my! Check out NSGC’s latest resources on how to write efficient and comprehensive documentation for the ever increasing number of patients seeking genetics services.

Since 2010, chromosomal microarray (CMA) was recommended as the first line genetic test in children with congenital anomalies and intellectual/developmental disability. Last week, however, ACMG recommended that exome or genome sequencing be instead considered as a first- or second-tier test. Read more about their justification here.

Most genetic counselors will interact with genetic counseling students in some capacity – as program leaders, instructors, supervisors, and/or mentors. Our interactions will have a lasting impact on students. Check out this publication in the Journal of Genetic Counseling that explores student experiences of professionalism and how they impact training!

A team out of Texas asked the question “How much downstream revenue do cancer genetic counselors (GCs) generate when they identify patients with hereditary breast and ovarian cancer (HBOC) and Lynch Syndrome (LS) pathogenic variants?” See what they found here.

Individuals and families affected by Parkinson’s disease (PD) are increasingly interested in genetic testing for the condition. This study explores the psychological impacts of and satisfaction with genetic counseling and testing for PD.

February is American Heart Month. Take a look at how one group is using case-control data sets to reduce the number of variants of uncertain significance received on inherited arrhythmia genetic testing.

Around 50 years ago, the first Master degrees for genetic counseling were awarded. This publication takes a look down memory lane and highlights the impact this field has had and continues to have in healthcare. Here’s to a new year and continued growth!

Newborn screening helps identify disorders that benefit from early diagnosis and treatment, and the conditions screened for vary widely by state. Check out this article, published last month in Genetics in Medicine, highlighting the feasibility of newborn screening for metachromatic leukodystrophy.

During breast cancer awareness month, it is important to acknowledge limitations in patient access to genetic counseling and testing for BRCA1/2 and other cancer risk genes. This study looks at alternative ways to deliver pre-test information to these patients. Check it out here.

Published in March 2020, this timely publication by Lowe et al expands on implicit racial bias. Specifically, it studies genetic counselors’ representation of cognitive and emotional processing in simulated clients. Check it out here.