Articles tagged with Genetic Counseling
A new mathematical model called LFSPRO was developed to predict the risk of Li-Fraumeni Syndrome. The model provides a more quantitative risk estimate for individuals who would benefit from testing but do not meet established criteria.
A web-based platform, GIFT, educates people with cancer about the impact of genetic variants on their family. The tool allows patients to invite relatives and provides information, decision support, and access to genetic testing.
Researchers identified over 200 distinct mutations associated with congenital deafness, including new and family-specific variants. The study provides guidance on communication methods and supports regular ophthalmological follow-up.
The Ontario Hereditary Cancer Research Network has created a comprehensive provincial database to support research on cancers passed down through genetics. Ontarians at risk of hereditary cancers can now register for access to clinical trials, advocacy groups, and other resources.
Ochsner Health's Genetic Wellness Assessment is an innovative screening tool that helps identify individuals at risk for hereditary cancers. The assessment evaluates personal and family history to provide personalized cancer screening and prevention plans.
The ASHG 2025 Annual Meeting will highlight advancements in rare disease research through long-read sequencing and collaboration. Genetic mechanisms of cancer risk and the clinical impact of latest epilepsy neurogenetics advances will also be showcased, along with decoding human aging and AI-powered genomics.
The NCCN Guidelines Navigator now covers treatment for over a dozen cancer types, including hereditary risk assessment, providing seamless navigation and search capabilities. The new format aims to improve treatment decision-making based on the latest evidence and expert-consensus.
A groundbreaking study enrolls 465 AYA cancer patients to test if chatbot technology and digital education tools increase uptake of genetic counseling and improve patient outcomes. The trial aims to address longstanding gaps in genetic services for AYAs aged 18-39, who often receive care with limited access to genetic specialists.
The Ochsner Health system implements pharmacogenomics to fine-tune treatments based on individual genetic profiles, transforming patient care through personalized medicine. Pharmacists play a pivotal role in spearheading these innovations, overcoming barriers and maximizing impact.
A new study reports on five patients with Canavan disease who have a novel variant identified through targeted long-read sequencing, revealing an SVA_E retrotransposable element that disrupts gene function. The findings enhance genetic diagnostics and enable improved guidance for families.
A study published in JAMA Network Open found that more than 90% of participants with medically important genetic findings were unaware of their risk prior to participation in Geisinger's MyCode program. The initiative has disclosed genetic results to over 354,000 participants, who can now take proactive steps to prevent or detect disease.
Jessica Adsit, a board-certified genetic counselor, received the 2025 ACMG Foundation Genetic Counselor Best Abstract Award for her platform presentation on next-generation sequencing in blastocyst stage embryos. The award celebrates contributions to research and clinical care made by licensed genetic counselors.
A team of geneticists discovered a gene 'silencer' in junk DNA that prevents the devastating neurological disease autosomal dominant leukodystrophy (ADLD). The silencer element regulates lamin B1 expression, only affecting one type of cell, and its presence can spare patients from fatal symptoms.
The new NCCN Guidelines for Patients: Genetic Testing for Hereditary Breast, Ovarian, Pancreatic, and Prostate Cancer provide evidence-based recommendations for assessing and testing for inherited genetic mutations. The resource aims to inform individuals about their cancer risks based on personal or family history.
Genetic testing for cancer risk should always include healthcare providers and genetic counseling to ensure users fully understand their results and receive proper guidance. The authors call on the FDA to provide clear rules for using these tests, particularly for minors.
The study analyzed DNA from over 100,000 participants and found that nearly 2,000 carried at least one genetic variant linked to these diseases. The findings have led to life-changing discoveries and new insights into personalized medicine.
The National Comprehensive Cancer Network has updated its guidelines for genetic/familial high-risk assessment, incorporating the latest scientific research and expert recommendations to enhance screening practices and treatment options. The expanded guidelines cover various cancer types and provide guidance on genetic testing, heredit...
The ASHG 2024 Annual Meeting will showcase the latest research in human genetics and genomics. The event will feature a Presidential Symposium on Mendelian traits and a Distinguished Speakers Symposium on the promise of human genetics and genomics, among other sessions.
Researchers have identified eight novel genetic mutations in patients with CSF1R-Related Disorder worldwide, highlighting the prevalence of the disease and paving the way for future individualized treatment. The discovery also suggests that genetic and environmental factors may influence the disease.
Researchers at Huntsman Cancer Institute found that a chatbot can assist patients in deciding whether to pursue genetic testing, offering an alternative to traditional genetic counseling. The study demonstrated equally likely outcomes between the chatbot group and those receiving standard two-appointment model care.
Research found that maintaining good cardiovascular health during the first trimester of pregnancy can partially mitigate the risk of adverse pregnancy outcomes. The study's results suggest that preconception and early pregnancy cardiovascular health counseling is crucial for preventing hypertensive disorders of pregnancy.
A new analysis found that people hospitalized for heart disease, stroke, or cardiovascular diseases are 83% more likely to be diagnosed with anxiety, depression, or other psychiatric conditions within the first year after hospitalization. Early mental health screening and intervention are crucial for patients and their loved ones.
The PD GENEration study has found that 13% of participants have a genetic form of Parkinson's disease, significantly higher than previous estimates. The study, which reached its goal of 15,000 participants ahead of schedule, provides insights into the genetics of the disease and its potential for precision medicine.
A recent commentary in the Canadian Medical Association Journal argues that free genetic testing may have trade-offs, particularly regarding patient data protection and potential harm. The authors emphasize the need for comprehensive guidance to help practitioners navigate this complex issue.
A new study from the University of Michigan Health Rogel Cancer Center found that nearly three-quarters of patients who were eligible for genetic testing at diagnosis received it over the study period. Those who got testing and found they had a genetic variant were most likely to talk with their family about the results.
A study by Sant Pau Research Institute identified a new mutation in the ARPP21 gene linked to amyotrophic lateral sclerosis (ALS) in 10 patients from 7 unrelated families. The finding suggests that ARPP21 is a novel ALS-causing gene with potential for personalized therapies and diagnosis.
A retrospective study of 202 participants found that only 83 presymptomatic carriers underwent predictive testing, highlighting limitations in current genetic testing methods. The researchers advocate for a comprehensive clinical approach combining genetic counseling, predictive testing, and monitoring, as well as psychosocial support.
Researchers found a correlation between genetic variations in three telomere-related genes and an increased risk of developing papillary thyroid cancer. The study suggests that individuals with these variants may benefit from closer monitoring for secondary cancers, and highlights the role of long telomeres in cancer development.
Women with germline BRCA pathogenic variants face increased risk of mortality from postpartum breast cancer, particularly those diagnosed under 10 years after giving birth. The study highlights the importance of genetic counseling and tailored prevention strategies for these high-risk individuals.
Researchers have discovered new genetic mechanisms related to spinocerebellar ataxia type 37, a rare neurological disorder that affects balance and movement. The study employed advanced techniques such as CRISPR/Cas9 gene editing and machine learning to uncover the disease's underlying causes.
The ACMG Foundation for Genetic and Genomic Medicine has presented seven Next Generation fellowship awards to promising early career professionals in medical genetics and genomics. The recipients include Xueyang Pan, Bianca Seminotti, and Adriel Yejin Kim, who will support their research projects with corporate donations from Pfizer, S...
Rory James Tinker, MD, has been selected as the recipient of the 2024 Richard King Award for his outstanding publication on phenotypic presentation of Mendelian disease. The award recognizes his research's impact on identifying, diagnosing, and treating rare disorders.
Christiana Wang, a second-year PhD candidate, has been awarded the prestigious award for her platform presentation on antisense oligonucleotide therapy for a dominant negative SPTAN1 pathogenic variant. Her research aims to develop individualized therapy for treating rare genetic disorders.
Meena Sethuraman, a third-year medical student, received the 2024 ACMG Foundation/Revvity Travel Award for her research on genetic variants in fatty acid oxidation disorders. The award recognizes her platform presentation on characterizing pathogenicity of ACADVL variants in very long-chain acyl-CoA dehydrogenase deficiency.
Melissa A. Kelly, MS, CGC, receives the 2024 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her platform presentation on integrating genomic medicine into healthcare. Her work exemplifies the importance of genetic counselors in clinical research and improving genetic services to populations.
Melissa A. Kelly, co-director of Geisinger's MyCode Genomic Screening and Counseling Program, received the award for her work integrating genomic medicine into healthcare through Geisinger's MyCode Community Health Initiative. The initiative has reported over 5,000 medically relevant results to patient-participants, many of whom were u...
The American College of Medical Genetics and Genomics (ACMG) has released a points to consider statement on the safety and efficacy of polygenic risk score assessment for embryo selection. The statement concludes that there is insufficient evidence to support its clinical utility, and further research is needed.
A statewide genomic screening program enrolls first 20,000 participants, providing information on genetic risk factors for diseases such as hereditary breast and ovarian cancer. The program aims to empower communities to understand the value of research and increase participation rates among underrepresented groups.
Researchers at the University of São Paulo analyzed data from 115 children with syndromic growth disorders and found a high incidence of overlapping genetic alterations. The study highlights the importance of genetic sequencing in accurate diagnosis and treatment.
The Association for Molecular Pathology published a report outlining considerations for a slice testing strategy, including gene selection and quality. This approach combines the advantages of high-quality gene panels with flexibility and broad scope of exome sequencing.
A Geisinger Health System study found that genomic screening for hereditary hemochromatosis type 1 can identify underdiagnosed cases and encourage treatment. The screening program resulted in 69% of those notified proceeding with a lab test, and 69% of those showing iron overload beginning subsequent treatment.
Researchers have identified a group of babies born to mothers who used fentanyl during pregnancy with similar facial and musculoskeletal abnormalities. The study suggests the emergence of a novel syndrome, which may be caused by fentanyl exposure or another contaminant.
A randomized clinical trial of 3,839 women found that skipping genetic counseling before or after taking a remote screening for ovarian or breast cancer did not increase distress, anxiety, or depression. The study suggests that eliminating mandatory pre-test and post-test counseling may increase testing completion rates.
The new guidelines provide a framework for genetic testing and counseling, recommending comprehensive testing and gene-targeted therapies for all persons with ALS. The guidelines aim to improve access and standardize practice among neurologists and genetic counselors.
A recent study found that gene panel sequencing as a first-tier screening test detected 2.7% of infants, with 50.4% diagnosed correctly. This alternative method identified undiagnosed cases in 1 out of every 500 newborns and showed promise for reducing false positives.
A large-scale international collaborative study has identified new genes associated with breast cancer, which could lead to better risk prediction and improved clinical management. The study found evidence for at least four new breast cancer risk genes, with many others showing suggestive evidence.
A new clinical practice resource provides valuable information for healthcare professionals caring for individuals with pathogenic variants in the CHEK2 gene. The resource assesses personalized risk estimates based on family history, specific variant, and other factors.
The American College of Medical Genetics and Genomics has released its updated Secondary Findings Gene List (SF v3.2) with three new cardiovascular genes added, including CALM1, CALM2, and CALM3. The list provides guidance on reporting incidental findings in clinical exome and genome sequencing.
A chatbot-based system improved the informed consent process for genomics research studies, leading to faster completion, higher understanding, and increased accessibility. The study involved 72 families and found that 96% of participants passed a quiz assessing their knowledge, with 86% reporting a positive experience.
A new study suggests combining digital cancer risk assessment with point-of-care genetic testing can help overcome clinical workflow challenges that prevent at-risk patients from accessing genetic testing. The approach more than doubled the average uptake of genetic testing, showing promise for cancer prevention and detection.
The American College of Medical Genetics and Genomics (ACMG) has published a statement addressing factors that contribute to bias in clinical genetic testing. The statement highlights three main areas: environmental, clinical, and technical biases, which affect health equity for individuals from historically marginalized populations.
A new case series study found that an 8-week methylation-supportive diet and lifestyle program reduced biological age by 4.60 years, with five of six participants exhibiting significant age reversal. The study suggests that this intervention may favorably influence biological age in both sexes.
A new American Heart Association scientific statement provides guidance on interpreting incidental genetic variants associated with cardiovascular disease risk. The statement aims to determine whether a variant truly carries a health risk and suggests next steps for individuals and healthcare professionals.
Researchers at Medical College of Georgia identified an increased prevalence of disease-causing genetic variants in females with unexplained infertility. The study found that 17% of these women had gene variants known to cause heart problems and cancer.
The ACMG Foundation presented four Next Generation Fellowship Awards to Amélie Pinard, Mina Tabrizi, Herodes Guzman, and others. These awards recognize the support of Bionano Genomics and Sanofi and aim to advance medical genetics and genomics specialties.
Dr. Alexander M. Holtz received the award for his published article on heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies. The study highlights primary cilia-dependent defects in Hedgehog signaling, shedding light on a previously unknown autosomal dominant condition.
Sarah Jurgensmeyer, MS, CGC, received the 2023 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her platform presentation on increasing access to pediatric genetic services. The award recognizes the increasingly important role of genetic counselors in clinical genetics and genomic medicine.
Isabelle B. Cooperstein, a PhD candidate, receives the 2023 David L. Rimoin Inspiring Excellence Award for her work on rare disease diagnosis tools. Her research aims to create accessible diagnostic solutions using Human Phenotype Ontology and sequencing data.
Dr. Nara Sobreira has developed innovative tools like GeneMatcher and VariantMatcher to aid in rare disease diagnosis, earning her the 2023 Watson Genetic Medicine Innovation Award. She continues to work on expanding genome analysis accessibility through education and research initiatives.
The NIH's All of Us Research Program has returned genetic health-related DNA results to over 155,000 participants, detailing increased risk for specific health conditions and medication processing. Participants can choose to receive tailored reports, including a Hereditary Disease Risk report and a Medicine and Your DNA report.