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 interface of genomic information with the electronic health record emphasizes the importance of patient autonomy, access, and privacy in integrating genomic data into EHRs. The document provides guidelines on data storage, access, and usage, aiming to optimize benefits while minimizing harm, and recommends standards for interoperab...
The American College of Medical Genetics and Genomics has released an updated technical standard for CFTR variant testing, incorporating revised information about cystic fibrosis and the CFTR gene. The new guidelines aim to improve the accuracy and efficiency of genetic screening and diagnosis.
The ACMG Foundation/PerkinElmer Diagnostics Travel Award recognizes Dr. Kuntal Sen and Dr. Shagun Kaur's innovative primary care clinic initiative, which aims to provide dedicated care for children with genetic disorders.
The ACMG Foundation for Genetic and Genomic Medicine has presented the Takeda/ACMG Foundation Next Generation Fellowship Awards to Dr. Aixa M. Gonzalez Garcia and Dr. Chen-Han Wilfred Wu. The awards provide funding for medical biochemical genetics subspecialty fellowship and clinical laboratory biochemical genetics training, respectively.
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.
Dr. R. Rodney Howell is recognized for his innovative work in newborn screening, which has saved countless lives. He will receive the first Dr. Michael S. Watson Genetic and Genomic Medicine Innovation Award from the ACMG Foundation for Genetic and Genomic Medicine.
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.
Thelma Alessandra Sugrañes, a medical genetics resident, received the David L. Rimoin Inspiring Excellence Award for her platform presentation on age of first cancer diagnosis and survival in Bloom syndrome. The award recognizes her outstanding research on monogenic cancer predisposition syndromes.
Clara Hildebrandt, MD, has been awarded the 2020 Sanofi Genzyme/ACMG Foundation Next Generation Fellowship Award. The award supports her one-year medical biochemical fellowship at Boston Children's Hospital to explore barriers to timely administration of enzyme replacement therapy.
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.
The American College of Medical Genetics and Genomics recommends evaluating all breast cancer patients for hereditary predisposition. However, they caution that there is insufficient evidence to support genetic testing for BRCA1/2 or multi-gene panels in all breast cancer patients.
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. Samuel Huang receives the Pfizer/ACMG Foundation Clinical Genetics Combined Residency Fellowship Award to enhance his clinical research training and expertise in biochemical genetics and therapeutics. He aims to improve patient care through translational genomics and policy changes.
Dr. Roger E. Stevenson, a senior clinical and research geneticist at the Greenwood Genetic Center, has received the 2019 ACMG Foundation David L. Rimoin Lifetime Achievement Award. The award recognizes his vision in founding the center, groundbreaking research on X-linked intellectual disability, and leadership in establishing programs...
The ACMG Foundation established a student travel scholarship fund to address the genetic workforce deficit, supporting medical and graduate students attending the 2019 ACMG Annual Clinical Genetics Meeting. The scholarship fund will benefit recipients through educational sessions, peer engagement, and research opportunities.
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.
The ACMG Foundation has recognized six next-generation fellows with the Takeda/ACMG Foundation Genetics and Genomics Residency Fellowship Program. Dr. Elizabeth Jalazo will focus on pediatric genetics, while Dr. Joshua Baker will work on lysosomal storage disorders research.
Cynthia Gubbels received the 2019 Perkin Elmer Travel Award for her platform presentation on rapid turnaround whole exome sequencing for critically ill neonates. This award supports researchers to present their findings and network with colleagues, facilitating career advancement and research advancements.
The American College of Medical Genetics and Genomics (ACMG) has released new guidelines to help providers develop policies/procedures for re contacting patients after revising genomic test results. The guidelines aim to address the complex questions surrounding patient re contact, including legal, ethical, and practical issues.
The American College of Medical Genetics and Genomics has received a five-year, $13 million contract renewal to continue its work in newborn screening. The Newborn Screening Translational Research Network (NBSTRN) will support groundbreaking research and build upon its decade-long efforts.
The American College of Medical Genetics and Genomics emphasizes the need for affordable treatment options for rare and ultra-rare diseases. Key recommendations include preventing abuses of the Orphan Drug Act and aligning drug packaging with dosing recommendations to reduce waste. The organization urges policymakers to develop simple,...
An expert panel found that only one (SCN5A) of the 21 genes typically included on a BrS genetic test has a definitive disease association. The panel disputed the associations with 20 other genes, which could lead to undue harm in patients and family members.
Priya Prasad, MD, has received the David L. Rimoin Inspiring Excellence Award for her platform presentation on population-based hereditary cancer risk assessment during screening mammography. The award recognizes her commitment to enhancing the appropriate utilization of screening for hereditary cancers.
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.
The Pfizer/ACMG Foundation has awarded Amanda Freed, M.D. and Kim Ng, M.D., a two-year fellowship to pursue clinical research training in biochemical genetics and genomics. The recipients will receive $75,000 per year for their residency training.
The ACMG Foundation for Genetic and Genomic Medicine announced four recipients of the 2018 Shire/ACMG Foundation Next Generation Fellowship Awards. These awards provide funding for clinical genetics and genomics residency fellowships as well as medical biochemical genetics specialty fellowships, supporting training in medical genetics.
Dr. Nishitha Pillai, a second-year medical genetics resident at Baylor College of Medicine, has been awarded the 2018-2019 Sanofi Genzyme/ACMG Foundation Next Generation Fellowship Award for her work in Medical Biochemical Genetics. The award will provide clinical and research experience to support her training.
Dr. Judith G. Hall, a pioneering geneticist, has been awarded the David L. Rimoin Lifetime Achievement Award for her groundbreaking research and teaching on human growth and connective tissue disorders. She is recognized for helping establish medical genetics as an accredited clinical specialty.
The ACMG Foundation/Shire Laboratory Geneticist Fellowship Awards and Clinical Genetics Residency Program supports the training of future medical geneticists. The program provides funding for three specialties: Clinical Genetics Residencies, Clinical Laboratory Fellowships, and Medical Biochemical Genetics Subspecialty Fellowships.
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.
Sureni V. Mullegama received the ACMG Foundation/PerkinElmer Diagnostics Travel Award for her platform presentation on Diagnostic Utility of Clinical Exome Sequencing in Autism Spectrum Disorder. She is currently a second year ABMGG Clinical Molecular Genetics Fellow at UCLA.
Allison Mitchell, MS, CGC, has received the ACMG Foundation Carolyn Mills Lovell Award for her work on clinical implementation of novel, preemptive pharmacogenomic testing for newborns. The award recognizes genetic counselors' expanding roles in genomic medicine and their contributions to patient care.
Dr. Tamanna Roshan Lal, a board-certified Pediatrician, received the $75,000 award to support her clinical genetics subspecialty training in biochemical genetics. The fellowship will provide advanced training in Clinical Biochemical Genetics and Lysosomal Storage Diseases.
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.
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.
Genome editing offers promise for treating genetic disorders but raises major technological and ethical concerns. The ACMG Board of Directors emphasizes the need to overcome current limitations and address issues such as off-target effects and epigenetic marks.
The American College of Medical Genetics and Genomics advocates for extensive sharing of genomic data to improve patient care. Responsible data sharing will provide critical information for clinical laboratories and treating physicians, leading to advancements in personalized medicine.
The American College of Medical Genetics and Genomics has released updated recommendations for reporting secondary findings in clinical exome and genome sequencing. The new list, ACMG SF v2.0, includes four additional genes and one removed gene, totaling 59 medically actionable genes recommended for return. The updates aim to provide s...
The American College of Medical Genetics and Genomics has released an updated position statement on noninvasive prenatal screening for detection of fetal aneuploidy. The guidelines provide recommendations for obstetric care providers and patients regarding the use of noninvasive prenatal screening (NIPS) in prenatal practice.
The ACMG Foundation has received a $165,000 commitment from Pfizer to provide fellowship grants for clinical genetics training. This funding will support the education and research of fellows in medical genetics.
The Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award supports training in biochemical genetics, lysosomal storage diseases, and therapeutics. The award grants $75,000 per year to two recipients selected by the ACMG Foundation.
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.
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.
The Sanofi Genzyme/ACMG Foundation Medical Genetics Training Award in Clinical Biochemical Genetics supports training programs advancing education, research, and standards of practice in medical genetics. The award grants $75,000/year to two recipients' institutions for clinical and research experience.
Jessica Tenney, MD, wins the 2016 ACMG Foundation/PerkinElmer Diagnostics travel award for her poster presentation on acrofacial dysotosis. The award recognizes her scientific merit and supports the development of medical genetic researchers.
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.
Dr. Bianca Russell has been awarded the David L. Rimoin Inspiring Excellence Award for her groundbreaking research on a novel skeletal dysplasia caused by homozygous mutations in BMPR1A. This achievement recognizes her dedication to advancing medical genetics and genomics.