Genetics in Medicine: Recent Episodes
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Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal's mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. As genetics and genomics continue to increase in importance and relevance in medical practice, the journal will be an accessible and authoritative resource for the dissemination of medical genetic knowledge to all medical providers through appropriate original research, reviews, commentaries, standards, and guidelines. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.
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
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
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
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.
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?
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.
November 2017: New Estimates of the Penetrance of Hemochromatosis: Time to re-think screening?
June: Weighing the costs, benefits and cost-effectiveness of population-wide genomic screening.
February: Prenatal and preimplantation genetic diagnosis for Huntington disease in the UK.
November 2018: Somatic mosaicism for genetic variants in brain tissue—a contributor to neurogenetic disease?
August 2018: Changing Interpretations of Sequencing Results – Clinical Impact in the Realm of Hereditary Cancers.
June 2018: High numbers of false positive results in Direct To Consumer testing samples.
May 2018: Drinking the Kool-Aid? How the popular press has portrayed personalized medicine.
February 2018: Cherchez la Femme! Maternal incidental findings can explain puzzling or discordant prenatal cell-free DNA screening results.
December 2017: Beyond 21, 18 and 13: Broadening applications of Non Invasive Prenatal Screening.
September 2017: Moving therapeutics ahead in Genomics: response to imatinib in infantile myofibromatosis.
May 2017: Whole Exome Sequencing...the right, cost effective test in the right clinical situation.
October 2016: An RCT evaluating simvistatin for treatment of Smith-Lemli-Optiz Syndrome.
December 2015: What's the real burden of Sickle Cell Disease in Africa and the Middle East?
October 2015: Expecting the Unexpected: Dealing with secondary findings in genomic sequencing.
March 2015: Consanguinity as both a challenge and opportunity in genetics and genomics.
November: Exploring a genotype-first approach for genetic variants that influence cardiac diseases
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
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
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.
October: Researchers are still laying the groundwork in the search for therapeutics that target the mechanism for genetic disorders leading to new treatments. On this month’s GenePod, authors of two recently published articles in Genetics in Medicine discuss where trials for such molecules are succeeding and where there is still more research to be done to determine the efficacy and safety of new treatments.