Genetics in Medicine

November 2024: Branching Out in the Decision Tree

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.

September: Team of experts creates ACMG’s first evidence-based clinical guideline recommending exome or genome sequencing for pediatric patients with congenital anomalies or intellectual disability

August: Diagnosing the undiagnosed: Genetic testing identifies the underlying causes of kidney disease

July: Artificial intelligence may provide a timely diagnosis for Fragile X syndrome

June: Universal newborn screening to identify pediatric cancer predisposition – could it work?

May: The implementation of clinical genomic DNA methylation testing in patients with rare disorders

April: Increasing access to genomic medicine in diverse communities: What shapes Latinx perspectives on health care incorporating genomics?

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

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

January: Is newborn screening for metachromatic leukodystrophy coming soon?

December: Elamipretide: A treatment for Barth syndrome

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

October: Online Access to Down syndrome Health-Care Tool

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

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

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

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

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

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

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

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

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

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

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

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

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

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

July: Testing guidelines for neurodevelopmental disorders – time for an update?

June: Weighing the costs, benefits and cost-effectiveness of population-wide genomic screening.

May: Improving non-invasive prenatal screening tests.