Neurodevelopmental disorders are the most prevalent chronic medical conditions
encountered in pediatric primary care. In addition to identifying appropriate descriptive …

The profession of genetic counseling (also called genetic counselling in many countries)
began nearly 50 years ago in the United States, and has grown internationally in the past 30 …

Congenital long QT syndrome (LQTS) encompasses a group of heritable conditions that are
associated with cardiac repolarization dysfunction. Since its initial description in 1957, our …

Few areas in psychiatry have advanced as rapidly as psychiatric genetics. We can now
study the genomes of individuals with and without psychiatric disorders with increasing …

Purpose Several professional organizations recommend universal genetic assessment for
people with ovarian cancer as identifying pathogenic variants can affect treatment …

Inherited genetic mutations can significantly increase the risk for prostate cancer (PC), may
be associated with aggressive disease and poorer outcomes, and can have hereditary …

Preimplantation genetic testing using polygenic risk scores (PGT-P) has recently been
introduced. However, PGT-P has been met with many ethical concerns. It is therefore …

To embrace the prospects of accurately diagnosing thousands of monogenic conditions,
predicting disease risks for complex traits or diseases, tailoring treatment to individuals' …

BRCA1 and BRCA2 are tumor suppressor genes that have been linked to inherited
susceptibility of breast cancer. Germline BRCA1/2 pathogenic or likely pathogenic variants …

Purpose In this ongoing national case series, we document 25 new genetic testing cases in
which tests were recommended, ordered, interpreted, or used incorrectly. Methods An …