Megan Tucker talks to Francesca Lake, Managing Editor: A certified genetic counselor for over 10 years, Megan is currently the director of the Indiana State University Genetic Counseling Graduate Program and the Genetic Counseling Clinic at Union Hospital (Terre Haute, IN, USA). She began her career split between the Center for Prenatal Diagnosis and the Medical Genetics and Neurodevelopmental ...

APRIL 2005 135 BUMC PROCEEDINGS 2005;18:134–137 Genetic counseling deals with the “human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in the family” (1). Genetic counseling is essentially a communication process—about medical facts, the contribution of heredity to certain conditions, the interpretation of test results, and the options available. It a...

•The first woman with a Malignant Brenner tumor and a BRCA2 mutation is described.•Not all women with epithelial ovarian cancers are referred for genetic counseling.•Women should be referred for genetics regardless of how rare the histology.

BACKGROUND Myths and concerns about the extent and meaning of genetic risk in schizophrenia may contribute to significant stigma and burden for families. Genetic counseling has long been proposed to be a potentially informative and therapeutic intervention for schizophrenia. Surprisingly, however, available data are limited. We evaluated a contemporary genetic counseling protocol for use in a c...

Cancer genetics and genomics are rapidly evolving, with new discoveries emerging in genetic mutations, variants, genomic sequencing, risk-reduction methods, and targeted therapies. To educate patients and families, state-of-the-art care requires nurses to understand terminology, scientific and technological advances, and pharmacogenomics. Clinical application of cancer genetics and genomics inv...

Phenotype descriptions are valuable information right at the interface of medicine and biology. With the rapid advancement in the fi eld of genetics, thousands of genes involved in human diseases have been cloned. It was expected that knowledge of mutations would lead to consistent genotype-phenotype correlations. The understanding of mechanisms underlying genotype-phenotype discrepancies is im...

We report a unique, collaborative effort by users and providers of genetic services to arrive at outlines for optimal ethics and clinical practice. Using focus groups of consumers (users) and providers (held separately), a provider-consumer project team developed 1) a consumer wish list, 2) an experientially based ethical overview of situations arising in practice, and 3) detailed suggestions f...

Asthma runs in families, and children of asthmatic parents are at increased risk of asthma. Prediction of disease risk is pivotal for the clinician when counselling atopic families. However, this is not always an easy task bearing in mind the vast and ever-increasing knowledge about asthma genetics. The advent of new genotyping technologies has made it possible to sequence in great detail the h...

Digital Object Identifier: 10.1188/03.CJON.591-594 In 1994, the first cancer susceptibility gene to be associated with hereditary breast and ovarian cancer was identified and became known as breast cancer gene 1 (BRCA1). In 1995, a second gene was identified and became known as BRCA2 (Calus, Schildkraut, Thompson, & Risch, 1996). With the identification of these two genes, a new field emerged i...