Articles tagged with Genetic Counseling
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.
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.
Research emphasizes the importance of ethnically diverse prostate cancer genomics data and accessible genetic testing. Variations in genomic landscape of prostate cancer were observed in Chinese men compared to Western cohorts, with lower mutation rates in driver genes such as TP53 and PTEN.
A study investigated total and out-of-pocket costs of genetic counseling among commercially insured adults with cancer, finding that these costs can significantly impact patient care. Factors contributing to higher costs were identified, highlighting the need for more affordable genetic testing options.
Researchers investigate regulatory frameworks governing preimplantation genetic testing in Japan, the UK, and Western Australia. The study highlights the need for a multidisciplinary approach to evaluate disease severity and make informed decisions about treatment.
A preliminary study published in eLife suggests that sperm screening can identify potentially harmful new genetic mutations and help prevent them from being passed on to offspring. The study found that 55 mutations were detected in the men's sperm, including 15 passed on to an embryo.
Researchers identify genetic determinants of immune phenotypes in type 1 diabetes, highlighting 11 genes as potential candidates for new treatments. Genetic variants affecting T-cell composition and cytokine production were found to be significantly involved in the disease.
Carly Peterson, a genetic counseling graduate student, received the 2022 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award. Her platform presentation explored parenting stress in raising children with sex chromosome aneuploidies, using data from the eXtraordinarY Babies Study.
Dr. Kushani Jayasinghe, a nephrologist and trainee in clinical genetics, received the 2022 Richard King Award for her article on genomic testing in patients with suspected monogenic kidney disease. The award recognizes high-quality research published in Genetics in Medicine by trainees.
Researchers found that a community-based approach to reporting APOL1 genetic test results resulted in lower blood pressure readings among hypertensive patients. This trial suggests that involving communities in genetic testing could be beneficial for reducing the risks of chronic kidney disease.
The University of Pennsylvania School of Medicine has been awarded a $9.5 million grant to increase diversity in genetic counseling programs, which currently lack a diverse workforce. The program aims to expand all dimensions of diversity and provide full tuition support to underrepresented students.
Physician attitudes and beliefs contribute to racial disparities in referrals for genetic counseling and testing. Black women are less likely to be referred for these services, despite having a higher breast cancer mortality rate than white women.
A study published by the European Society of Human Genetics found that genetic testing can identify the cause of childhood epilepsy in half of those studied, allowing for tailored treatments. This breakthrough discovery has the potential to improve treatment possibilities and avoid unnecessary procedures.
A recent UNSW study found that women who received their polygenic risk score (PRS) for breast cancer experienced minimal regret and reduced distress compared to those who declined. The researchers also discovered that more women reported regret about not knowing their PRS score, highlighting the importance of providing clear informatio...
Adam Guenzel, PhD has received the prestigious Richard King Trainee Award for his outstanding publication on Krabbe disease diagnosis and monitoring. The award recognizes Dr. Guenzel's research contributions to improving newborn screening protocols and novel biochemical assays.
The ACMG Foundation has awarded the 2021 Carolyn Mills Lovell Genetic Counselor Award to Adrienne Bailey and Renee S. Jones, acknowledging their exceptional work in genetic counseling. The award recognizes their platform presentations on innovative approaches to patient education and genetic testing.
Dr. Chaya N. Murali, a pediatric geneticist, received the 2020 Richard King Award for her outstanding research on patient-reported outcomes in children with osteogenesis imperfecta. Her award-winning article demonstrated the utility of a new data collection instrument.
Katelynn Sagaser received the 2020 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her research on hypophosphatasia, a previously unrecognized disease. The award recognizes genetic counselors' vital contribution to patient care and highlights their role in thorough interpretation of genetic testing results.
The new ACMG Points to Consider document provides a comprehensive framework for the safe and effective use of fetal exome sequencing in prenatal diagnosis. The guidelines address concerns around turnaround time, variant reporting, and patient consent, aiming to improve patient care and reproductive choices.
A new decision aid tool has been shown to reduce the time patients spend speaking with genetic counselors while increasing their knowledge of the benefits of genomic sequencing. The study found that patients who used the Genomics ADvISER needed to spend 24 minutes less speaking with a counselor than those who did not access the tool.
The NIH has awarded $4.6 million to Color to establish a nationwide genetic counseling resource as part of the All of Us Research Program. Participants will receive personalized interpretation and guidance on genomic testing results, ancestry, and risk factors for specific diseases.
Jin Yun Helen Chen, MS, CGC, was awarded the 2019 ACMG Foundation Lovell Genetic Counselor Award for her work on Phenotype Genotype Variability among Sibships with Spinal Muscular Atrophy. The award recognizes the critical contribution of genetic counselors to clinical genetics and newborn screening.
Dr. Bryce Seifert, Laboratory Genetics and Genomics Fellow at Duke University School of Medicine, has been awarded the 2019 Richard King Trainee Award for his outstanding research publications in Genetics in Medicine.
Sarah Brnich, an MD-PhD student, received the award for her work on classifying germline genetic variants by their functional consequence. Her research aims to improve clinical variant interpretation and incorporate functional data into guidelines.
A study by the BabySeq Project found that genomic sequencing can identify risk for childhood-onset disorders, including highly actionable conditions, in a significant percentage of newborns. The research team reported finding genetic variants associated with several heart conditions and biotinidase deficiency in infants.
A randomized, controlled trial found that 77% of patients who received remote phone or video counseling sessions underwent genetic testing, compared to just six percent in the usual care group. The study also highlights the importance of addressing disparities in genetic testing and knowledge among community practice patients.
Erin Riggs, MS, CGC received the ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her platform presentation on resolving copy number variant discrepancies. The award aims to recognize genetic counselors' contributions to clinical genetics services.
Dr. Steven Harrison received the 2018 Richard King Trainee Award for his article on resolving variant interpretations submitted to ClinVar, published in Genetics in Medicine. The award recognizes high-quality research by trainees in genetics and genomics.
A recent study found that up to 40% of direct-to-consumer genetic tests provide incorrect readings in raw data. The findings highlight the importance of seeking clinical test validation to ensure accurate patient care.
An international panel of experts has developed a comprehensive set of recommendations for genetic counseling and testing in men with high-risk prostate cancer. The guidelines aim to inform screening, treatment planning, and personalized care, taking into account the rapidly evolving field of practice.
A study in Malaysia assesses the effectiveness of mainstreaming genetic counselling for ovarian cancer patients. Preliminary results show that most patients are satisfied with their experience, regardless of whether they receive counselling by a trained clinician or a genetic counsellor.
Leroy Hubert, Jr., Ph.D., was awarded the David L. Rimoin Inspiring Excellence Award for his research on a novel diagnostic biomarker for Peroxisomal Biogenesis Disorder. The award recognizes his contributions to medical genetics and genomic medicine.
Dr. Rebecca Ahrens-Nicklas received the 2017 Richard King Trainee Award for her research on medium-chain acyl-CoA dehydrogenase deficiency in exclusively breastfed neonates. Her study identified the risk of early decompensation, highlighting the importance of close management of feeding difficulties.
Dr. Laird G. Jackson received the 2017 ACMG Foundation David L. Rimoin Lifetime Achievement Award for his pioneering work in prenatal genetic testing and pediatric genetics. He is recognized for his dedication to teaching and mentorship, as well as his groundbreaking research on Cornelia de Lange Syndrome.
A study of over 2,500 women with newly diagnosed breast cancer revealed a significant gap between the need for genetic testing and its availability. High-risk patients, particularly those from Asian backgrounds and older women, were under-tested due to lack of physician recommendation and inadequate assessment of patient risk and desire.
Dr. Prasit Phowthongkum is the recipient of the 2016 Horizon Pharma/ACMG Foundation Award, which provides $40,000 per year to support his one-year fellowship training in clinical genetics. The award aims to advance education, research, and standards of practice in medical genetics.
Gozde Akgumus, a genetic counselor at the Children's Hospital of Philadelphia, received the 2016 Carolyn Mills Lovell Award for her work in cancer diagnostics. The award recognizes the contributions of laboratory genetic counselors to patient care and genomic research.
Katherine M. Dempsey, a genetic counseling student at the University of Texas, has won the 2016 Richard King Trainee Award for her groundbreaking research on mismatch repair deficient tumors and Lynch Syndrome. Her work explores the inherent heterogeneity in families with apparent predisposition to colon cancer.
A new study published in the Journal of Clinical Psychiatry shows that genetic counseling is valuable for patients with schizophrenia, bipolar disorder, and similar conditions. Genetic counseling helps clarify misconceptions about the cause of psychiatric illnesses and reduces feelings of guilt and distress.
A study of commercially insured women found that most did not receive genetic counseling after BRCA testing, with lack of clinician recommendation being the main reason. Women who received counseling had greater knowledge and satisfaction with their test results.
A national study by University of South Florida researchers and Aetna found that only 36.8% of women received genetic counseling before BRCA testing, with Obstetrician/Gynecologists having the lowest rates. Women who received counseling demonstrated greater knowledge and satisfaction.
A study published in JAMA found that incorporating genomic sequencing and counseling into pediatric cancer treatment improved patient outcomes and changed treatment plans. The study showed that nearly half of patients had actionable findings that led to individualized actions, including genetic counseling and changes in treatment.
The American College of Medical Genetics and Genomics has released a new 'Scope of Practice' document to clarify the changing role of medical genetics specialists. The document defines the specialty's scope, including genetic consultations, counseling, testing, and education.
Patricia Hall, Ph.D., of Emory University received the 2015 Richard King Trainee Award for her high-quality research on newborn screening published in Genetics in Medicine. The award recognizes outstanding contributions to the field of medical genetics and genomics.
Researchers found that disclosing genetic risk information led to increased perceived personal control and counseling satisfaction among patients. Patients who received genetic risk information also reported adopting healthier behaviors to reduce coronary heart disease risk.
Dr. Huma Q. Rana received the 2014 Richard King Trainee Award for her manuscript on Parkinson Disease Risk in GBA Mutation Carriers. The award recognizes outstanding research in genetics and genomics, supporting trainees' careers and promoting high-quality publications.
Sickle cell trait affects 3 million US citizens, with few aware of their status. Researchers call for improved communication of SCT results to primary care clinicians and genetic counseling on reproductive options
A study by Loyola University Chicago Stritch School of Medicine researcher Katherine Wasson and colleagues provides insight into how primary care patients experience genetic testing. Most participants found results easy to understand with the help of a genetic counselor, but few could interpret them on their own.
The Cleveland Clinic has developed a clinical screening program for Lynch syndrome, the most common genetic cause of colon cancer in adults. The program uses universal screening for colorectal cancers surgically removed at the clinic and successfully referred individuals whose tumors screen positive to genetics professionals.
A new study from the University of Michigan found that parents of newborns with sickle cell anemia are less likely to receive genetic counseling than those whose babies are cystic fibrosis carriers. This disparity may be due to physicians' perceptions of the risks associated with each condition.
A survey of mothers tested for hereditary breast cancer risk genes and their partners found unmet needs in making well-informed decisions about family communication. Genetic counseling should provide assistance to parents in disclosing risk information to children, the article proposes.
Researchers have identified a gene responsible for Thrombocytopenia with Absent Radii (TAR), a rare inherited blood and skeletal disorder. The discovery enables the development of a medical test for prenatal diagnosis and genetic counseling in affected families.
A validated scale measures concern about cancer in healthy people and evaluates the effectiveness of genetic counseling. The 'Escala de Preocupación por el Cáncer' tool is a reliable instrument for healthcare professionals to identify patients with high levels of fear, alerting them to preventive testing.
A genetic variant associated with the MUC5B gene is a major risk factor for pulmonary fibrosis, increasing risk by 6-9 times with one copy and 20-22 times with two copies. The discovery may alter research directions and identify patients at risk.
Adam H. Buchanan, a board-certified genetic counselor and research scientist at Duke University, won the award for his platform presentation on telemedicine vs in-person cancer genetic counseling in rural oncology clinics. He found that telemedicine-based counseling was as well accepted as in-person counseling at less than half the cost.
A study by scientists at Stanford and Harvard Universities analyzed a patient's full genome to identify disease risks and unusual drug responses. The analysis revealed variants associated with diseases in the patient's family and conditions not inherited, highlighting the potential of whole-genome sequencing for personalized medicine.
A genetic mutation in the TACO1 gene has been identified as underlying late-onset Leigh syndrome, a rare inherited metabolic disorder characterized by central nervous system degeneration. The study provides insights into cell biology and will lead to diagnostic and predictive tests for family and genetic counseling.
A team of Penn State scientists has identified unique patterns in the DNA sequences surrounding insertions and deletions, suggesting mechanisms that may have generated these mutations. The findings could influence genetic counseling for couples seeking to have children.
The American College of Medical Genetics recommends offering genetic test for SMA to all couples, regardless of family history. The goal is to identify carriers and provide early testing options, while ensuring informed consent and access to reproductive resources.