Recent advances in next-generation sequencing technologies have brought a paradigm
shift in how medical researchers investigate both rare and common human disorders. The …

Following the identification in a proband of a germline BRCA1/BRCA2 mutation in hereditary
breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome …

The current standard model for identifying carriers of high-risk mutations in cancer-
susceptibility genes (CSGs) generally involves a process that is not amenable to population …

In genetic medicine, a patient's diagnosis can mean their family members are also at risk,
raising a question about how consent and confidentiality should function in clinical genetics …

Twenty-five percent of medullary thyroid cancers (MTC) are familial and inherited as an
autosomal dominant trait. Three different phenotypes can be distinguished: multiple …

The goal of sequencing the entire human genome for $1000 is almost in sight. However, the
total costs including DNA sequencing, data management, and analysis to yield a clear data …

Preconception care to address genetic risks in reproduction may be offered either
individually to couples with a known or suspected increased risk of having a child with a …

What factors influence intrafamilial communication of hereditary breast and ovarian cancer
(HBOC) genetic risk information? Such information can have health implications for …

Inherited cardiac arrhythmias such as long QT syndrome and Brugada syndrome, present
clinical as well as ethical, legal, and social challenges. Many individuals who carry a …

The introduction of genome‐wide arrays in postnatal and prenatal diagnosis raises
challenging ethical issues. Here, we explore questions with regard to the ethics of consent …