The American Journal of Medical Genetics Part A is to be congratulated for taking a leadership role by publishing a number of papers challenging the status quo of prenatal counseling for Down syndrome and of care for children and adults with Down syndrome. Parents want to know about the future abilities and potential of their fetus with Down syndrome, not simply negative medical information tha...

Clinical genetics is one of the most rapidly advancing fields in medicine. Spectacular progress has been achieved in this century with unraveling of the entire draft sequence of the human genome and identification of greater than 14,000 single gene disorders. A major contribution of these advances has been in diagnosis, management and prenatal diagnosis of genetic disorders, as the treatment in...

Genetic counseling is the process in which an individual or a family obtains information and advice about a genetic condition that may affect the individual, his progeny, his relatives, or the family as a whole. Based on this knowledge, he can take the pertinent decision regarding marriage, reproduction, abortion and health management. Genetic counseling includes five themes, medical management...

BACKGROUND Genetic testing has multigenerational and familial repercussions. However, the "trickle-down effect" of providing genetic counseling and testing to family members at risk after an initial identification of a pathogenic variant in a medically actionable gene has been poorly understood. METHODS Three probands were identified during the pharmacogenetics research phase of eMERGEII (ele...

In potentially inherited cardiac diseases, the family history is of great importance. We looked at the way cardiologists take a family history in patients with idiopathic dilated cardiomyopathy (DCM) or long QT syndrome (LQTS) and whether this led to screening of relatives or other follow-up. We performed retrospective cross-sectional analyses of adult index patients with DCM or LQTS in a gener...

Breast cancer is a common manifestation of an underlying genetic susceptibility to cancer, and 5% to 10% of all breast cancers are associated with a germline mutation in a known risk allele. Detection of mutations has implications for targeted screening and prevention strategies for probands, and for genetic counseling and testing of their family members. This report presents a case involving a...

BACKGROUND This study assessed counseling and testing needs from the perspective of adult members of a large African-American kindred with a BRCA1 mutation. METHODS Interviews were conducted with 95 male and female kindred members to elicit information on sociodemographics, attitudes toward health care providers, breast cancer screening behaviors, and religious/spiritual beliefs, as well as t...

ABSTRACT Background: Increasing numbers of mutations causing monogenic forms Parkinson's disease (PD) have been described, mostly among patients in Europe and North America. Since genetic architecture varies between different populations, studying the specific profile Brazilian is essential for improving counseling selecting clinical trials. Objective: We conducted a systematic review to identi...

In 1997, the National Institutes of Health convened a Consensus Development Conference on Cystic Fibrosis (CF).1 The Consensus Conference recommended that genetic screening for CF mutations should be offered to identify carriers among adults with a positive family history of CF, partners of individuals with CF, couples currently planning a pregnancy, and couples seeking prenatal care. A second ...