Hereditary Disease

U.K. charity to offer $1.6M in grants for research on muscle-wasting diseases

U.K. research projects will benefit from 1.3 million pounds ($1.6 million) in grants to improve diagnostic testing and potential new treatments for muscle-wasting and -weakening conditions.

September 14, 2023

Identification of hundreds of blood pressure genes lays foundation for hypertension drugs

Researchers have found hundreds of genes that may affect blood pressure, setting the stage for further studies that could inform the development of new treatments for hypertension.

September 12, 2023

Messenger RNA shows preclinical promise as in vivo gene editing treatment for sickle cell

The delivery of the editing system resulted in the near-complete correction of hematopoietic sickle cells. A preclinical test linked the approach to a 91.7% increase in functional hemoglobin and a significant fall in the number of sickled cells.

August 14, 2023

Analysis of 462M lipid test results reveals global variation in cholesterol levels

Mean total cholesterol levels exceeded the World Health Organization (WHO) target in seven of the 17 countries included in the analysis, namely Japan, Australia, North Macedonia, Switzerland, Germany, Slovakia, and Austria.

July 17, 2023

Devyser posts increase in sales in Q2, H1

For the quarter ended in June, the company reported a loss after tax of SEK 14.3 million, or a loss of SEK .90 per share.

August 23, 2022

Study revises thinking on genes and breast cancer risk

The review incorporates the findings of the Cancer Risk Estimates Related to Susceptibility (CARRIERS) consortium, a group evaluating predisposition genes and the incidence of breast cancer. Drawing from U.S. population studies, researchers evaluated hereditary cancer genetic testing for 12 established breast cancer genes in a total of 32,247 women with breast cancer and 32,544 women without breast cancer. Results were published by Fergus Couch, PhD, a consultant in experimental pathology and laboratory medicine at the Mayo Clinic, and colleagues.

January 21, 2021

Experts call for universal genetic testing in metastatic prostate cancer

The article from Dr. Veda Giri of Sidney Kimmel Cancer Center at Thomas Jefferson University and colleagues reflects a review of germline and somatic testing in prostate cancer discussed at an international multidisciplinary consensus conference held October 4 to 5. The meeting – the Philadelphia Prostate Cancer Consensus Conference 2019: Implementation of Germline Testing for Prostate Cancer, was hosted by Sidney Kimmel Cancer Center at Thomas Jefferson University.

June 10, 2020

PerkinElmer says it's not target of federal probe

The company's statement came in response to a May 18 article by Reuters claiming that PerkinElmer was being investigated for "alleged Medicare fraud involving tens of thousands of unnecessary genetic cancer tests." The article was based on statements by three anonymous sources.

May 17, 2020

Older women benefit from genetic breast cancer testing

The study addresses the question of who exactly should undergo breast cancer genetic testing, wrote a team led by Dr. Allison Kurian of Stanford University.

March 10, 2020

CDC coronavirus test comes to labs | A closer look at payment policy | CRISPR drives diagnostics

Dear LabPulse Member,

February 10, 2020

CMS plans broader coverage for NGS in breast, ovarian cancer

The agency's review and terms and conditions on the matter were published on October 29 in a proposed national coverage determination (NCD). The agency advised coverage for next-generation sequencing with physician-ordered companion diagnostic tests approved or cleared by the U.S. Food and Drug Administration (FDA) and performed in a CLIA-certified lab. Patients must meet a range of conditions, according to CMS. They must have ovarian or breast cancer, have clinical indications for testing for hereditary cancer, and have never received a prior NGS test. Results will be provided to the treating physician.

October 29, 2019

Invitae provides free testing to pancreatic cancer patients

Patients must meet criteria in specific clinical areas where genetic testing is underutilized to be eligible for testing. Professional guidelines recommend genetic testing for all pancreatic cancer patients to guide treatment choices and evaluate eligibility for clinical trials, the company noted in a statement.

September 8, 2019

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