Genepod

August: Creating a framework to assess resource needs for genetic services.

September: Genotyping aids medication decisions and benefits heart procedure patients: pharmacogenomics in action.

October: Variants on the corresponding allele may explain atypical clinical features in patients with 22q deletion syndrome. 

November: RNA sequencing improves diagnostic rate for rare disease patients.

December: What’s holding clinicians back from recommending genetic testing for Parkinson's disease patients?

January: Classifying variants of unknown significance in BRCA1/BRCA2 based on family and personal history.

February: RNA sequencing provides new diagnoses for patients with neurodevelopmental disorders.

March: Should all breast cancer patients get germline genetic testing?

April: A therapeutic benefit to additional sugar intake? Pilot study shows galactose supplement holds promise for patients with rare congenital glycosylation disorder.

May: Lost in transcription: Incorporating blood RNA analysis in genomic medicine services can help clinicians classify variants of uncertain significance.

June: International collaborations aim to provide genetic clues to COVID-19’s variable disease path and outcomes.

July: COVID-19 presents challenges for care of patients in genetics and metabolic disease clinics.

August: A discussion of ACMG’s recent guidance on the integration of genomic information into the EHR.

September: How to overcome barriers and meaningfully engage Alaska Native tribes and tribal health organizations in genomic research

October: Online Access to Down syndrome Health-Care Tool

November: Exploring a genotype-first approach for genetic variants that influence cardiac diseases

December: Elamipretide: A treatment for Barth syndrome

January: Is newborn screening for metachromatic leukodystrophy coming soon?

February: Targeted exome sequencing for second-tier newborn screening tests: technology to scale

March: Turning principles into policy: Combating systemic racism in genetics and genomics publications