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The U.S. Preventive Services Task Force recommends that women who are at increased risk for BRCA1/2 mutations should undergo genetic counseling

USPSTF Recommends Genetic Counseling for High BRCA Risk

But counseling not recommended for women without personal, family history, ancestry associated with BRCA mutations
A considerable proportion of families diagnosed at an autosomal dominant tubulointerstitial kidney disease specialist center are the result of direct family referral from the internet

Internet Self-Referrals Aid in Diagnosis of Rare Inherited Kidney Disease

Twenty-four percent of direct family referrals to specialist center had positive genetic testing
First-degree relatives of patients with hematological malignancies have increased relative risks for the same tumor types and some different hematological malignancies

Hematological Malignancy Risk Up for First-Degree Relatives

Increased familial relative risks for the same tumor type for most hematological malignancies
A U.S. clinical trial of CRISPR gene-editing to treat people with sickle cell disease is underway.

Trial Tests CRISPR Gene-Editing to Treat Sickle Cell Disease

Study seeks to recruit up to 45 adults with severe sickle cell disease
In a U.S. first

First U.S. Trial Using CRISPR Within the Body Set to Begin

Researchers will attempt to give patients with Leber congenital amaurosis a healthy version of the gene they lack
Regardless of test results

Most Women Do Not Regret Genetic Testing Before IVF

Some level of regret is common, but women are overwhelmingly satisfied with decision
Metagenomic next-generation sequencing of cerebrospinal fluid obtained from patients with meningitis or encephalitis can improve diagnosis of neurologic infections

Next-Gen Sequencing of CSF Improves Diagnosis of CNS Infections

Eight of 13 diagnoses made solely by metagenomic NGS had likely clinical effect, seven guided treatment
Genome-wide polygenic risk scores can predict coronary artery disease

Polygenic Risk Score Reliably Predicts Coronary Artery Disease

PRS predicts prevalent CAD but does not perform as well for predicting incident, recurrent CAD
The importance of establishing specialized clinical cardiovascular genetics programs is addressed in an American Heart Association scientific statement published online May 23 in Circulation: Genomic and Precision Medicine.

Specialized Programs in Clinical Cardiovascular Genetics Needed

New cardiovascular subspecialist, genetic cardiologist, needed to interpret genetic variation
The vast majority of people at risk for Huntington disease choose not to be tested preemptively

Most At-Risk Opt Out of Genetic Testing for Huntington Disease

Lack of cure, inability to 'undo knowledge' primary reasons for not going through with testing