American College of Medical Genetics and Genomics

23andMe Launches Total Health™, its Comprehensive, Prevention-Based Health Membership

Retrieved on: 
Tuesday, November 7, 2023
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SOUTH SAN FRANCISCO, Calif., Nov. 07, 2023 (GLOBE NEWSWIRE) -- 23andMe Holding Co. (Nasdaq: ME) (23andMe), a leading genetic health and biopharmaceutical company, today launched 23andMe+ Total Health, its new, comprehensive prevention-based health membership that provides clinical grade exome sequencing, biannual blood testing, and unprecedented access to genetics-based clinical care.

Key Points: 
  • SOUTH SAN FRANCISCO, Calif., Nov. 07, 2023 (GLOBE NEWSWIRE) -- 23andMe Holding Co. (Nasdaq: ME) (23andMe), a leading genetic health and biopharmaceutical company, today launched 23andMe+ Total Health, its new, comprehensive prevention-based health membership that provides clinical grade exome sequencing, biannual blood testing, and unprecedented access to genetics-based clinical care.
  • Members of Total Health will also receive all the reports and features offered in the Company’s existing 23andMe+ Premium Membership .
  • As part of Total Health, members will gain access to all the premium reports and features delivered through 23andMe+ Premium.
  • The 23andMe+ Total Health membership will cost $99 per month, billed in a one-time annual payment of $1,188.

Duchenne Muscular Dystrophy Added to New York State's Newborn Screening Panel

Retrieved on: 
Wednesday, October 25, 2023
Female, Genetic counseling, Medical genetics, University of Rochester Medical Center, American College, Infant, ACMG, Life, Legislation, NBS, Mentorship, PPMD, Becker muscular dystrophy, Anatomical pathology, Duchenne muscular dystrophy, NYS, Advisory Committee, University, NIH, A.J.K. Mass Communication Research Centre, American College of Medical Genetics and Genomics, Diagnosis, Prognosis, Bangladesh Technical Education Board, Birth control, Pharmaceutical industry, Genomics, Advocacy, Duchenne

WASHINGTON, Oct. 25, 2023 /PRNewswire/ -- In a monumental stride towards improving the lives of children affected by Duchenne muscular dystrophy (Duchenne), Parent Project Muscular Dystrophy (PPMD) proudly announces that Governor Hochul of New York State (NYS) has signed bill S6814/A5042, making Duchenne newborn screening mandatory for all babies born in the state. This remarkable milestone comes after years of dedicated advocacy by PPMD, in collaboration with partners and families, to break down barriers to treatment and care for the Duchenne community.

Key Points: 
  • Another Duchenne Newborn Screening win—every baby born in New York State to be screened for Duchenne muscular dystrophy!
  • WASHINGTON, Oct. 25, 2023 /PRNewswire/ -- In a monumental stride towards improving the lives of children affected by Duchenne muscular dystrophy (Duchenne), Parent Project Muscular Dystrophy (PPMD) proudly announces that Governor Hochul of New York State (NYS) has signed bill S6814/A5042, making Duchenne newborn screening mandatory for all babies born in the state.
  • New York State has paved the path in advancing Duchenne newborn screening, notably through a pilot program carried out from 2019 to 2021.
  • New York State is now the second state, after Ohio, to mandate newborn screening for Duchenne.

Mount Sinai Announces New System Chief of Genomic Medicine

Retrieved on: 
Tuesday, September 26, 2023
Genomic Health, Cleveland Clinic, University, Population health, Genetics, Icahn School of Medicine at Mount Sinai, Public, Yale New Haven Health System, Murray, Brigham and Women's Hospital, University college, Research, Department of Medicine – University of Pamplona, DSM-IV codes, Mount Sinai, Genetic distance, Doctor of Philosophy, Harvard Medical School, Publication, MD, American College of Medical Genetics and Genomics, Patient, Division, Internal medicine, Cancer, James D. Watson Institute of Genome Sciences, Clinical, Diagnosis, Hospital, Medical genetics, American College, Health, Mount Sinai Health System, Penn State University College of Medicine, Vaccine, Pharmaceutical industry, Medical device, Genomics, Medicine

NEW YORK, Sept. 26, 2023 /PRNewswire-PRWeb/ -- Michael F. Murray, MD, Professor of Medicine at the Icahn School of Medicine at Mount Sinai, has been named the new System Chief of the Division of Genomic Medicine and the Clinical Director of the Institute for Genomic Health at Mount Sinai. He will lead its efforts to harness the power of genomic discovery to develop new ways to prevent and treat diseases, including cancers, heart problems, and genetic disorders.

Key Points: 
  • Michael F. Murray, MD, Professor of Medicine at the Icahn School of Medicine at Mount Sinai, has been named the new System Chief of the Division of Genomic Medicine and the Clinical Director of the Institute for Genomic Health at Mount Sinai.
  • NEW YORK, Sept. 26, 2023 /PRNewswire-PRWeb/ -- Michael F. Murray, MD, Professor of Medicine at the Icahn School of Medicine at Mount Sinai, has been named the new System Chief of the Division of Genomic Medicine and the Clinical Director of the Institute for Genomic Health at Mount Sinai.
  • Before joining the Mount Sinai Health System, he led cutting-edge efforts to integrate genomic medicine into clinical care delivery at Harvard Medical School, Geisinger Community Medical Center, and Yale New Haven Health System.
  • "With the investment that the Mount Sinai Health System has made in genetics and genomics technology in the clinical and research arenas, we are making an impact upon the care we provide to patients in a significant way," said Monica Kraft, MD, the Murray M. Rosenberg Professor of Medicine and System Chair of the Department of Medicine at Mount Sinai Health System and Icahn Mount Sinai.

EveryLife Foundation Study Measures Economic Impact of Delayed Diagnosis of Rare Diseases

Retrieved on: 
Thursday, September 14, 2023
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This new study on the Cost of Delayed Diagnosis is a follow-up to the landmark 2021 “ National Economic Burden of Rare Disease Study ,” which estimated that the economic impact of 379 rare diseases in 2019 was nearly $1 trillion, with 60% of those costs being shouldered directly by families and society.

Key Points: 
  • This new study on the Cost of Delayed Diagnosis is a follow-up to the landmark 2021 “ National Economic Burden of Rare Disease Study ,” which estimated that the economic impact of 379 rare diseases in 2019 was nearly $1 trillion, with 60% of those costs being shouldered directly by families and society.
  • “Medical costs for rare diseases are inevitable, but avoidable costs from delayed diagnosis not only place financial strain on individuals and families but also divert crucial healthcare funds.
  • For individuals with late onset Pompe disease, delayed diagnosis increased mean annual direct medical costs in the year of diagnosis by approximately $50,000 per patient compared with timely diagnosis.
  • For more information about “Cost Benefits of Early Diagnosis and Screening in Rare Disease” study, visit the study website at everylifefoundation.org/delayed-diagnosis-study .

Baylor Genetics Announces Neurodevelopmental Disorders Test Panel to Help Healthcare Providers Diagnose Patients with Intellectual Disabilities or Developmental Delays

Retrieved on: 
Tuesday, September 12, 2023
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The panel analyzes a clinically curated and targeted set of 236 genes to help healthcare providers and patients achieve a prompt, accurate genetic diagnosis and a better understanding of prognosis and anticipated disease progression.

Key Points: 
  • The panel analyzes a clinically curated and targeted set of 236 genes to help healthcare providers and patients achieve a prompt, accurate genetic diagnosis and a better understanding of prognosis and anticipated disease progression.
  • Baylor Genetics leveraged its genetic expertise and robust datasets to create the Neurodevelopmental Disorders Panel, which joins a growing catalog of disease-specific panels.
  • The panel is performed on an exome backbone capable of extracting a specific subset of genes for clinical reporting.
  • If panel results are negative, healthcare providers may request Whole Exome Sequencing allowing for broader analysis to help make a genetic diagnosis.

GeneDx Announces Data Demonstrating that Whole Exome and Genome Sequencing Report Fewer Variants of Uncertain Significance (VUS) than Multi-Gene Panel Testing Published in Genetics in Medicine

Retrieved on: 
Monday, August 21, 2023
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The study, “ The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change ,” evaluated the rate of inconclusive genetic variants, or variants of uncertain significance (VUS), reported with multi-gene panels versus exome and genome sequencing.

Key Points: 
  • The study, “ The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change ,” evaluated the rate of inconclusive genetic variants, or variants of uncertain significance (VUS), reported with multi-gene panels versus exome and genome sequencing.
  • Study findings concluded that VUS are reported more frequently on multi-gene panels (32.6%) than exome and genome sequencing (22.5%).
  • Exome and genome sequencing tests demonstrated lower rates of reported VUS compared to multi-gene panel tests.
  • Importantly, the study found:
    Data from this study was previously presented at the American Society of Human Genetics (ASHG) 2022 Annual meeting.

CCRM Fertility to Open State-of-the-Art Fertility Clinic and IVF Lab in Miami

Retrieved on: 
Tuesday, July 25, 2023
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MIAMI, July 25, 2023 /PRNewswire/ -- CCRM Fertility, the global pioneer in fertility treatment, research and science, today announced expansion to South Florida with a new state-of-art fertility clinic and in vitro fertilization (IVF) lab in Miami. The clinic is located in the Esplanade at Aventura development at 19505 Biscayne Blvd., Suite 2230, in Miami, FL, 33180. CCRM Fertility of Miami is co-founded by reproductive endocrinology and infertility specialists, Dr. Jonah Bardos and Dr. Callum Potts. Both doctors are currently accepting new patients.

Key Points: 
  • MIAMI, July 25, 2023 /PRNewswire/ -- CCRM Fertility , the global pioneer in fertility treatment, research and science, today announced expansion to South Florida with a new state-of-art fertility clinic and in vitro fertilization (IVF) lab in Miami.
  • CCRM Fertility of Miami is co-founded by reproductive endocrinology and infertility specialists, Dr. Jonah Bardos and Dr. Callum Potts .
  • "There is an escalated need for high-quality, personalized fertility care in Miami," said Bob LaGalia, president and CEO of CCRM Fertility.
  • CCRM Fertility of Miami is a full-service fertility center that provides fertility testing, fertility preservation, intrauterine insemination, in vitro fertilization, preimplantation genetic testing, LGBTQ+ family-building and third-party reproduction services.

GeneDx Commends the States of Arizona and Florida for Adding Rapid Whole Genome Sequencing (rWGS) as a Covered Benefit for Medicaid Pediatric Patients

Retrieved on: 
Tuesday, June 20, 2023
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Both states have funded the rWGS benefit in their 2023/2024 budget bills, expected to take effect July 1, 2023.

Key Points: 
  • Both states have funded the rWGS benefit in their 2023/2024 budget bills, expected to take effect July 1, 2023.
  • Florida and Arizona join a growing list of states (California, Louisiana, Maryland, Michigan, Minnesota, and Oregon) that recognize the importance of offering rWGS in the NICU and PICU to provide a rapid diagnosis for patients.
  • That number is expected to rise across the U.S. with additional bills pending in three states, including Massachusetts.
  • GeneDx is committed to ending the diagnostic odyssey with genome and exome sequencing, and supporting additional scientific studies, such as SeqFirst, to demonstrate the benefits of these potentially life-saving tests to patients and their families.

CENTOGENE Accelerates Global Genetic Data Interpretation, Launching FilterTool Application as Accessory to CentoCloud® Bioinformatics Pipeline

Retrieved on: 
Wednesday, April 26, 2023
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CAMBRIDGE, Mass. and ROSTOCK, Germany and BERLIN, April 26, 2023 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), the essential life science partner for data-driven answers in rare and neurodegenerative diseases, today announced the launch of FilterTool, an advanced web-based application for genetic data interpretation.

Key Points: 
  • and ROSTOCK, Germany and BERLIN, April 26, 2023 (GLOBE NEWSWIRE) -- Centogene N.V. (Nasdaq: CNTG), the essential life science partner for data-driven answers in rare and neurodegenerative diseases, today announced the launch of FilterTool, an advanced web-based application for genetic data interpretation.
  • The new FilterTool application seamlessly integrates with CENTOGENE’s CE-marked Software as a Service (SaaS) bioinformatics pipeline, CentoCloud®, as an accessory and enables laboratories, medical experts, and bioinformaticians to efficiently display, filter, select, and classify relevant genetic variants identified by Next Generation Sequencing (NGS) data analysis.
  • This will allow CentoCloud® users to visualize key genetic variants of concern for any given patient.
  • “The new FilterTool application is an innovation that was designed by physicians, for physicians, and when combined with CentoCloud®, significantly accelerates genetic variant interpretation.

GeneDx Presents New Data at ACMG Demonstrating the Benefits of Exome Sequencing Over Chromosomal Microarray

Retrieved on: 
Thursday, March 16, 2023
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To determine whether exome sequencing is comparable to CMA with respect to copy number variant (CNV) yield, GeneDx compared the reported CNV results on over 8,000 probands who had CMA and exome sequencing between May 2019 and May 2022.

Key Points: 
  • To determine whether exome sequencing is comparable to CMA with respect to copy number variant (CNV) yield, GeneDx compared the reported CNV results on over 8,000 probands who had CMA and exome sequencing between May 2019 and May 2022.
  • Overall, exome had a CNV detection rate of 93.4%, factoring in that some CMA-reported CNVs were detected by exome sequencing but not reported due to lack of phenotypic fit.
  • Additionally, for CMA negative cases, exome sequencing found a CNV in 1.3% of these cases, mostly due to limitations in CMA probe coverage.
  • “Exome sequencing has a much higher diagnostic yield as it covers both sequence variants and CNVs, whereas CMA is limited to detecting only CNVs.