OBJECTIVE To demonstrate the importance of genetic knowledge in coming decades and to outline necessary areas of genetic education. METHOD This article reviews research involving genetic testing of children for cancer syndromes, development disabilities, psychiatric problems, and other conditions. RESULTS The developmental, clinical, research, and consultation skills of well-trained pediatr...

The parasitoid wasp Nasonia represents a genus of four species that is emerging as a powerful genetic model system that has made and will continue to make important contributions to our understanding of evolutionary biology, development, ecology, and behavior. Particularly powerful are the haplodiploid genetics of the system, which allow some of the advantages of microbial genetics to be applie...

Background Gynaecological cancers may be the sentinel malignancy in women who carry a mutation in BRCA1 or 2, a mis-match repair gene causing Lynch Syndrome or other genes. Despite published guidelines for referral to a genetics service, a substantial number of women do not attend for the recommended genetic assessment. The study aims to determine the outcomes of systematic follow-up of patient...

Systems genetics is a novel approach for identifying the complex genetic architecture of quantitative traits and gene-environment interactions via detection of connections from genetic variation through intermediate phenotypes to overlying systems level phenotypes. This symposium, conducted at the Experimental Biology 2010 conference, aimed at educating nutrition researchers about the use of sy...

Genetics opinion surveys often include information to ensure that respondents have sufficient understanding to give informed responses. The information is assumed to be neutral but may skew responses. We assessed the impact of a seemingly "neutral" information leaflet on attitudes towards genetic testing among 1,024 survey respondents, half of whom received the leaflet. The leaflet group report...

A colloquium on genetic literacy in pediatric primary care sponsored by the Health Resources and Services Administration Maternal and Child Health Bureau was held at the American Academy of Pediatrics headquarters on October 2–3, 2012. The overarching goal of the colloquium was to provide context for delivery of genetics-related services in day-to-day pediatric primary care practice, encompassi...

The field of statistical genetics has developed considerably over the past five years due to the substantial advances in genomic technology. The volume and the nature of these data create a need for reliable computer software to perform statistical analyses. SAS/GENETICS offers a collection of procedures specifically tailored for genetic data such as ALLELE, HAPLOTYPE, CASECONTROL and FAMILY pr...

Many orphan diseases have been identified that individually affect small numbers of patients but cumulatively affect approximately 6%-10% of the European and United States populations. Human genetics has become increasingly effective at identifying genetic defects underlying such orphan genetic diseases, but little progress has been made toward understanding the causal molecular pathologies and...

Developmental genetics of congenital heart diseases has evolved from analysis of embryo sections towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Lineage analysis, transgenic animal models and retrospective clonal analysis of the developing heart led to identification of different cardiac lineages and their respective roles. Genetics of congenital ...

Stroke genetics includes several topics of clinical interest, including (1) molecular genetic variations affecting risk of monogenic stroke syndromes; (2) molecular genetic variations affecting risk of common stroke syndromes, sometimes with specific effects on risk of specific main types of stroke or subtypes of ischemic and hemorrhagic stroke; (3) genetics of conditions associated with stroke...