Genepod

June 2023 - The clinical impact of commercial laboratories issuing conflicting classifications of genetic variants – are some clinicians unknowingly diagnosing in the dark?

May 2023: How might medical geneticists prepare for the advent of gene therapy treatments of genetic diseases?

April 2023: Use of a PreEMPT model found that universal genetic screening for hypertrophic cardiomyopathy at birth would save lives but was unlikely to be cost-effective

March 2023: OXGR1 variants: novel candidate disease gene for kidney stone disease?

February 2023: Diagnosing genetic developmental and epileptic encephalopathies in Africa

January 2023: Awareness of genetic testing – results and analysis from the 2020 Health Information National Trends Survey

December 2022: Standardizing variant annotation

November 2022: Disclosure of secondary findings from genomic testing in children

October 2022: A points to consider statement of the ACMG

September 2022: CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis

August: Klinefelter Syndrome and XYY in males mostly unrecognized in a large biobank study

July: Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis

June: Harmonizing gene–disease evidence resources globally

May: The Clinical Variant Analysis Tool: a systematic way to assess genomic testing results

April: The positive economic impact of rapid genomic testing for critically ill infants and children

March: Genome sequencing holds great potential to diagnose newborns with phenotypes suggestive of a genetic disorder. However, this technology has not been widely adopted for this population, and particularly not in newborns from underserved and low-income communities.

February: Matchmaking is an increasingly important strategy to help link rare diseases to genetic variants. These tools allow clinicians and researchers to search across previously siloed databases, clinics, and laboratories and access data about the potential genetic underpinnings of undiagnosed rare diseases across international boundaries. But to date there hasn’t been much research on the user experience.

January: When it comes to breast cancer, Non-Hispanic Black women have a 40% higher mortality rate than Non-Hispanic White women. Additionally, Non-Hispanic Black women have dramatically lower rates of uptake of genetic testing and then, if testing finds variants that would warrant such actions, undergoing prophylactic preventative surgeries.

December: As cardiovascular disease has many known genetic components, a team of researchers at Baylor College of Medicine created a panel of genes associated with cardiovascular disease they call HeartCare. David Murdock, previously the assistant director of the clinical lab at Baylor College of Medicine’s Human Genome Sequencing Center and now a lab director at Invitae, states “we thought that by looking at genetic causes of cardiovascular disease in an adult population, that could really help us to push forward genetic testing in adults in general”.

November: Polygenic risk scores (PRS) can be an important tool in breast cancer patients to help stratify individuals into levels of disease risk. The clinical utility of PRS is still being evaluated, but what hasn't yet been evaluated is how to communicate such results to patients, and how they respond to their PRS scores.