Medical genetics

LetsGetChecked Names Avni Santani, PhD, FACMG, Chief Genomics Officer Following Acquisition of Veritas Genetics

Retrieved on: 
Wednesday, June 21, 2023
General Health, Health, Health Technology, Telemedicine, Virtual Medicine, Health Insurance, Informatics, American Society for Clinical Laboratory Science, University, College, CHOP, Texas A&M University, College of American Pathologists, Multimedia, Associate, Public sector, Organization, American Board of Commissioners for Foreign Missions, Pathology, FACMG, AI, Association for Molecular Pathology v. Myriad Genetics, Inc., Veritas Genetics, Medical genetics, Antibiotics, Genomics, Doctor of Philosophy, Genetics

LetsGetChecked, a global healthcare solutions company, announced today the appointment of Avni Santani, PhD, FACMG, to Chief Genomics Officer.

Key Points: 
  • LetsGetChecked, a global healthcare solutions company, announced today the appointment of Avni Santani, PhD, FACMG, to Chief Genomics Officer.
  • She joins the team from Veritas Genetics, a pioneering genomics company that was acquired by LetsGetChecked in 2022.
  • Dr. Santani holds a Ph.D. in Genetics from Texas A&M University and is board-certified in clinical laboratory genetics and genomics by the American Board of Medical Genetics and Genomics (ABMGG).
  • “I am delighted to be continuing my work in genetics with LetsGetChecked,” said Dr. Avni Santani, Chief Genomics Officer at LetsGetChecked.

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
Seattle Children's, International, University, Hypotonia, GeneDx, Jackson Health System, NICU, Birth, University of Miami, Intensive care medicine, Whole genome sequencing, Patient, University of Washington School of Medicine, MMSc, WGS, Diagnosis, Hospital, Medical genetics, American College, PICU, American College of Medical Genetics and Genomics, Genome, ACMG, Nursing, Genomics, Neonatology

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.

Children’s Hospital Los Angeles and Los Angeles Unified School District Partner to Offer Telehealth Visits from School with CHLA Specialists

Retrieved on: 
Wednesday, June 14, 2023
Technology, Children, Hospitals, Other Technology, Telemedicine, Virtual Medicine, General Health, Consumer, Health, Primary, Secondary, Education, Adolescent medicine, Children's Hospital Los Angeles, Heart, Superintendent of the Los Angeles Unified School District, Telehealth, Partnership, Travel, Caregiver, Medicine, CHLA, COVID-19, Privacy, School, Student, Patient, Child, National Blue Ribbon Schools Program, Digital, Immunology, MPH, Medical genetics, Nursing, Hospital, Pulmonology, Endocrinology

In a first-of-its-kind partnership between a hospital and a local school district, Children's Hospital Los Angeles (CHLA) and Los Angeles Unified School District have joined together to offer virtual healthcare visits for children at school through the Virtual Care at School Program.

Key Points: 
  • In a first-of-its-kind partnership between a hospital and a local school district, Children's Hospital Los Angeles (CHLA) and Los Angeles Unified School District have joined together to offer virtual healthcare visits for children at school through the Virtual Care at School Program.
  • The program aims to create a personalized and convenient way for children to receive care at school from CHLA specialists in lieu of being absent for an appointment.
  • “The partnership with Children’s Hospital Los Angeles, the largest provider of pediatric medical care in Los Angeles County, will not only provide world-class care from CHLA specialists.
  • Los Angeles Unified identified the following 20 schools to pilot the program based on an in-depth analysis of absenteeism rates and the number of students with chronic conditions at each school.

New 23andMe survey reveals nine out of ten physicians in the U.S. believe genetics play an important part of a patient’s complete health picture

Retrieved on: 
Tuesday, May 16, 2023
Medical genetics, Lijun International Pharmaceutical (Holding) Co. Ltd., Learning, DTC, 23andMe, DNA, Genomic Health, Education, Internal medicine, Health, Genetics, Privacy, Doctor of Philosophy, Education outreach, MD, Patient, Physician, Medscape, Genetic testing, Knowledge, Environment, Family, Pharmaceutical industry, Nursing

SUNNYVALE, Calif., May 16, 2023 (GLOBE NEWSWIRE) -- 23andMe Holding Co. (Nasdaq: ME) (23andMe) today announced that a new survey, which found that primary care physicians are more and more comfortable discussing genetic testing with their patients than they were two years ago, and that more than two-thirds of those physicians who’ve taken a test themselves would recommend testing for health purposes if a patient inquired.

Key Points: 
  • Based on this most recent survey, physicians’ attitudes seem to have evolved.
  • It can also help us diagnose diseases earlier and personalize management,” said Noura Abul-Husn, MD, PhD, Vice President of Genomic Health at 23andMe.
  • About 33 percent of doctors said they’d had patients wanting to discuss their genetic health risk information from a DTC genetic health test.
  • The survey is a follow-up to a 2018 survey and a 2020 survey on the same topic and on the same platform.

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

Retrieved on: 
Wednesday, April 26, 2023
Software as a service, IVDR, European Parliament, European, NGS, DNA sequencing, Software, Research, Data analysis, Patient, American College of Medical Genetics and Genomics, Laboratory, Data, Physician, Medicine, Diagnosis, American College, Medical genetics, ACMG, Medical device, Pharmaceutical industry, Nursing, Genomics, Service

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.

Nicklaus Children's Hospital Forms Clinic to Assist Patients with Undiagnosed Conditions

Retrieved on: 
Tuesday, April 11, 2023
Medical genetics, Heart, Learning, Nicklaus Children's Hospital, Metabolism, Genetics, Speech, Brain, Language, Rare, Behavior, Whole genome sequencing, Frasier, Patient, Child, Metabolomics, Epilepsy, Genetic testing, Diagnosis, Hospital, Roger Hawkins (drummer), Memory, DSM-IV codes, Medical imaging, Dietary supplement, Vaccine, Medical device

MIAMI, April 11, 2023 /PRNewswire/ -- Nicklaus Children's Hospital this month has launched a new clinic dedicated to assisting families seeking answers for a child with a rare or undiagnosed disease. The Undiagnosed Diseases Clinic, which occurs monthly, offers the latest genetic testing technologies for eligible patients.

Key Points: 
  • MIAMI, April 11, 2023 /PRNewswire/ -- Nicklaus Children's Hospital this month has launched a new clinic dedicated to assisting families seeking answers for a child with a rare or undiagnosed disease.
  • The Undiagnosed Diseases Clinic, which occurs monthly, offers the latest genetic testing technologies for eligible patients.
  • The Undiagnosed Diseases Clinic is dedicated to helping such families identify the genetic condition affecting their child in hopes it leads to diagnosis and treatment."
  • Undiagnosed neurodevelopmental conditions, including difficulties with language and speech, motor skills, behavior, memory, learning or other neurological functions.

NRMP® Publishes Comprehensive Data Book for Fellowship Matches

Retrieved on: 
Wednesday, April 5, 2023
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WASHINGTON, April 5, 2023 /PRNewswire/ -- The National Resident Matching Program® (NRMP) has released Results and Data Specialties Matching Service, 2023 Appointment Year for Fellowship Matches conducted by the NRMP's Specialties Matching Service (SMS®). The report shows 13,919 active applicants competed for 13,365 fellowship positions offered by 5,734 programs. 

Key Points: 
  • The NRMP formalized its Specialties Matching Service in 1984 and conducted its first fellowship Match that year for Colon & Rectal Surgery.
  • Currently, the Specialties Matching Service has grown to include 73 subspecialties in 20 separate fellowship Matches occurring year-round.
  • The number of fellowship positions per active U.S. MD graduate was 1.83 for the 2023 appointment year, 0.07 more than last year.
  • The ratio of fellowship positions to all active applicants was 0.96 for the 2023 appointment year, 0.03 more than last year.

GeneDx Announces Progress on GUARDIAN Study and Promise of Early Genomic Testing to End Rare Disease “Diagnostic Odyssey”

Retrieved on: 
Monday, March 20, 2023
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This included 15 confirmed cases with G6PD deficiency, a genetic disorder not integrated with standard newborn screening.

Key Points: 
  • This included 15 confirmed cases with G6PD deficiency, a genetic disorder not integrated with standard newborn screening.
  • Additionally, reportable sequence variants from 238 genes screened in the GUARDIAN study were included in a retrospective analysis performed by GeneDx.
  • “GUARDIAN is quickly teaching us a lot about how to implement genome sequencing in newborns,” said Paul Kruszka, M.D., Chief Medical Officer of GeneDx.
  • Further, as more patients are diagnosed with a rare disease, clinical trials can be established that help to more quickly develop therapies that can treat, or perhaps cure, rare diseases.

Synlogic Announces Data Presentations at the Society for Inherited Metabolic Disorders (SIMD) 44th Annual Meeting

Retrieved on: 
Monday, March 20, 2023
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In separate poster presentations, the company also presented clinical data and preclinical data related to its homocystinuria (HCU) program.

Key Points: 
  • In separate poster presentations, the company also presented clinical data and preclinical data related to its homocystinuria (HCU) program.
  • “We were delighted to review these encouraging findings from our two rare metabolic disease programs among the expert metabolic clinicians who attend the SIMD meeting,” said Dave Hava, Chief Scientific Officer and Head of Research and Development at Synlogic.
  • Clinical data presented included positive data from the Phase 1 study evaluating SYNB1353 in healthy volunteers using a dietary model of HCU.
  • Posters presented at the SIMD meeting are posted on the Publications page of the Synlogic website.

Porex Life Sciences Institute Expands Saletto® Filtered Saliva Collection Device to the Genetic Testing Market

Retrieved on: 
Friday, March 17, 2023
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ATLANTA, March 17, 2023 (GLOBE NEWSWIRE) -- The Porex Life Sciences Institute, a member of Filtration Group providing integrated solutions in the life sciences field, announced today during the 2023 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting that it is expanding the availability of its Saletto® Oral Fluid Collection Device to the genetic and genomic testing market. The aim of this expansion is to help more individuals predict their risk of certain chronic diseases through easy access to state-of-the-art saliva collection technology.

Key Points: 
  • Originally launched to the market in April 2021, Saletto is the first saliva collection device to incorporate filtration that can reduce and standardize the viscosity of saliva samples, eliminating common preparation steps and sample dilution, and producing a ready-to-use sample.
  • “Experts around the world concur that genomic information is a vital resource to making informed medical decisions,” said Avi Robbins, president of Porex Life Sciences Institute.
  • “Resolving saliva sample variability and ensuring saliva tests can be incorporated into laboratory workflows is key to expanding the use of saliva testing,” said David T.W.
  • “Saletto is a saliva collection device to reduce and standardize the viscosity of saliva samples, in an easy-to-use, at-home tool.”