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.
ClinGen, a comprehensive program, aims to evaluate the clinical relevance of genetic variants for precision medicine. The database will facilitate data sharing among laboratories and clinicians, improving understanding of genetic variation's role in human health and disease.
The ACMG Foundation presents the first recipient of the David L. Rimoin Inspiring Excellence Award to Dr. Marcus Miller for his platform presentation on Metabolomic Analysis Uncovers Significant Trimethylamine N-oxide Production. The award supports research in metabolomics and human genetic disorders.
The ACMG Foundation has announced the inaugural recipient of the Carolyn Mills Lovell Award, presented to Stephanie Harris CGC for her poster presentation on hypertrophic cardiomyopathy research. The award aims to recognize genetic counselors' contributions to clinical genetics and includes a $1000 cash prize.
Dr. Mindy H. Li, MD, received the 2015 ACMG Foundation/PerkinElmer diagnostics Travel Award for her groundbreaking research on phenotypes and electronic health record systems in pediatric individuals with intellectual disability. The award recognizes her scientific merit and supports medical genetic researchers.
The Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award provides clinical research training in biochemical genetics, including lysosomal storage diseases and therapeutics. The award grants $75,000 per year to three recipients selected by the ACMG Foundation.
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.
Amy Kritzer and Ronit Marom received the Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics to advance education, research, and standards of practice in medical genetics. The $75,000 award provides clinical and research training at premier medical centers.
Two recipients, Paldeep S. Atwal and Jamie J. Barea, received the award to support their training in clinical biochemical genetics and metabolic diseases diagnosis and treatment. The $75,000 grant will sponsor one year of subspecialty training in biochemical genetics after residency.
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.
Jun Shen, Ph.D., was honored as the 2014 recipient of the ACMG Foundation/Signature Genomics from PerkinElmer Inc. Travel Award for her platform presentation on a novel combinatorial algorithm predicting pathogenicity of human missense variants. The award recognizes Dr. Shen's scientific merit and supports her work in medical genetics ...
Dr. Xiangling Wang, a medical genetics resident at the Mayo Clinic, has received the inaugural Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award. The award aims to advance education, research, and standards of practice in medical genetics.
The journal provides a series of research articles detailing challenges and solutions for integrating genomic data into EHR. Studies discuss the need for patient involvement in decisions about their genomic information, as well as the potential of Genomic Decision Support to improve care.
The American College of Medical Genetics and Genomics has released a policy statement on noninvasive prenatal screening for fetal aneuploidy, highlighting its advantages and limitations. The statement recommends following up positive results with invasive diagnostic tests to avoid patient harm.
Caleb P. Bupp, a medical geneticist, received the 2013 ACMG Foundation/Signature Genomics Travel Award for his presentation on twenty years of neural tube defect surveillance and prevention in South Carolina. The award recognizes young researchers in the field of medical genetics and genomics.
Lindsay Burrage and Shane Quinonez received the 2013-14 Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics. The award provides $75,000 per year for one year of clinical genetics subspecialty training in biochemical genetics after residency.
The American College of Medical Genetics and Genomics has released a report on incidental findings in clinical exome and genome sequencing. The report provides guidelines for laboratories to return incidental genetic findings to doctors ordering the tests, who will then manage the information with patients. This is expected to benefit ...
Researchers recommend exploring genetic testing to identify people at high risk for preventable diseases, with the technology becoming increasingly accessible and affordable. A carefully selected panel of genetic tests could avert disastrous health consequences in individuals at high risk.
Dr. Neng Chen received the 2012 Richard King Trainee Award for her high-quality research published in Genetics in Medicine. The award encourages and recognizes outstanding publications by ABMG trainees.
Barone, a University of Pittsburgh School of Medicine student, was honored for her research on treating genetic disorders in the pediatric setting. She will receive travel costs to the ACMG Annual Clinical Genetics Meeting thanks to Signature Genomics' generous support.
The Genzyme/ACMG Foundation Awards support clinicians in biochemical genetics, with a focus on metabolic diseases. The 2012-2013 recipients, Dr. Carlos E. Prada and James D. Weisfeld-Adams, received $75,000 per year for one year of clinical genetics subspecialty training.
R. Rodney Howell, a prominent pediatrician and geneticist, has been honored with the 2012 American College of Medical Genetics Foundation Lifetime Achievement Award for his work in newborn screening and genetic research. He is recognized for his leadership role in developing and advancing the program.
Dr. Michael S. Watson, PhD, FACMG, receives the first ACMG Presidents' Award for his groundbreaking work in translating genetic information into healthcare use. He has been a driving force behind the American College of Medical Genetics' success.
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.
Anna-Kaisa Niemi, a resident in Medical Genetics at Stanford University Medical Center, received the 2011-2012 Genzyme/ACMG Clinical Genetics Fellowship in Biochemical Genetics. The fellowship supports clinicians in metabolic diseases diagnosis and treatment.
Rebekah Stackpole Zimmerman received the Richard King Trainee Award for her manuscript on a custom resequencing array for Dilated Cardiomyopathy, published in Genetics in Medicine. The study validated the use of this array to sequence 19 genes associated with DCM, improving test cost and turnaround time by approximately 50%.
Dr. Alecia Willis, a clinical molecular geneticist, was recognized for her platform presentation on personal medical genomics at the American College of Medical Genetics Annual Clinical Genetics Meeting. The Signature Genomic Laboratories Travel Award supports rising medical genetic researchers in the field.
Dr. Marwan Khaled Tayeh was awarded the 2010 Richard King Trainee Award for his groundbreaking research on targeted comparative genomic hybridization array analysis. The award recognizes his contribution to the identification of deletions and duplications responsible for human diseases.
The American College of Medical Genetics Foundation has recognized Dr. Marilyn M. Li's efforts in advancing the field of medical genetics. She is being supported by a $100,000 grant to promote safe and effective genetic testing services.
Dr. Ayman W. El-Hattab, a Medical Genetics fellow, received the 2010-2011 Genzyme/ACMG Foundation Clinical Genetics Fellowship in Biochemical Genetics. The award supports his research on glucose kinetics in patients with MELAS syndrome via stable isotope technology.
Dr. Rimoin was recognized for his research into skeletal dysplasias and heritable disorders of connective tissue, and for helping to organize the field of medical genetics. He is one of the true giants of medical genetics, with a long distinguished career of research and leadership.
The American College of Medical Genetics emphasizes the value of residual newborn screening dried blood spots in improving child health. The statement supports the storage and use of these spots to enhance newborn screening programs nationwide, while maintaining privacy and confidentiality.
Dr. Jonathan Berg received the inaugural Richard King Trainee Award for his publication on microduplications in the 22q11.2 region. The award recognizes the utility of array CGH technology in identifying genomic imbalances and its impact on defining molecular etiology and clinical phenotypes.
Dr. Kathy M. Chun, Director of Cytogenetics and Molecular Genetics at North York General Hospital, is the recipient of the 2009 Signature Genomic Laboratories Travel Award. The award recognizes outstanding young researchers in medical genetics and covers travel costs to the ACMG meeting.
Dr. Sihoun Hahn received the 2009-2010 Luminex/ACMGF Award to promote safe and effective genetic testing and services. The award supports research guidelines and recognizes medical geneticists' role in translating genetic research into medical services.
Dr. Margarita Saenz, a Medical Genetics Fellow, has been awarded the Genzyme/American College of Medical Genetics Foundation Clinical Genetics Fellowship in Biochemical Genetics. This fellowship supports clinicians in biochemical genetics and diagnosis of metabolic diseases.
Arno G. Motulsky, a pioneer in medical genetics, was awarded the inaugural ACMG Foundation Lifetime Achievement Award for his outstanding leadership and contributions to the field. The award recognizes his work as a founder of pharmacogenetics and his impact on training generations of geneticists.
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.
The American College of Medical Genetics has received a $13.5 million NIH contract to develop a National Newborn Screening Translational Research Network, aiming to enhance the understanding of rare genetic diseases through research and collaborative efforts.
A study of 215 women who underwent BRCA testing found that personal beliefs about inconclusive results are a strong predictor of psychological adjustment. Women with higher levels of worry and distress were more likely to struggle with the uncertainty of their test results.
The American College of Medical Genetics has established guidelines for direct-to-consumer genetic testing to ensure informed decision-making. The recommendations include involving a knowledgeable health professional, clear information about test results, and scientific evidence-based testing protocols.
Peter J. McGuire, MB BCh, has been awarded the 2008-2009 Genzyme/ACMGF Clinical Genetics Fellowship in Biochemical Genetics at Mount Sinai Medical Center, New York. This fellowship supports a trainee's research and training in biochemical genetics.
The American College of Medical Genetics Foundation awarded David H. Ledbetter a $100,000 grant to promote safe and effective genetic testing and services. Ledbetter is a leading expert in molecular karyotyping and shared national databases for genetic data accumulation.
Emory University geneticist Madhuri R. Hegde was honored with the 2008 Signature Genomic Laboratories Travel Award for her scientific merit and selected presentation at the 2008 ACMG Annual Clinical Genetics Meeting. The award recognizes outstanding young researchers in medical genetics and covers travel costs to future meetings.
The American College of Medical Genetics recommends using genetic testing to guide warfarin dosing and reduce the risk of bleeding complications. The review suggests that genetic variants in CYP2C9 or VKORC1 can be used to determine optimal dosing levels, but further research is needed to address clinical utility and balance between ha...
T. Andrew Burrow, MD of Cincinnati Children's Hospital Medical Center received the $75,000 grant to support training of clinicians in biochemical genetics. The award aims to recruit and train physicians in clinical biochemical genetics for metabolic diseases diagnosis and treatment.
The American College of Medical Genetics Foundation awarded Dr. Stuart Schwartz a $100,000 grant to develop a clinical practice model incorporating whole genome SNP array analysis. This project aims to promote safe and effective genetic testing and services.
The American College of Medical Genetics recommends that all newborns be screened for 29 serious disorders, which can lead to death or mental retardation if left untreated. Early detection and treatment through newborn screening can make a significant difference in the long-term outcome of affected children.