International reference reagents to standardise blood group genotyping: evaluation of candidate preparations in an international collaborative study.

BACKGROUND AND OBJECTIVES: The aim of the study was to evaluate, in an international collaboration, four lyophilised genomic DNA preparations, selected from genotyped and phenotyped donors by the study organisers, for their suitability to standardise and control blood group genotyping procedures for common ancestral Caucasian and Black African alleles. MATERIALS AND METHODS: Twenty-nine laboratories performed 'blind' testing of replicated ampoules of the candidate reference reagents, RBC1 (10/232), RBC4 (10/236), RBC5 (10/238) and RBC12 (10/234), using a range of genotyping procedures, most commonly classical PCR using allele or sequence specific primers. RESULTS: The majority of laboratories reported blood group genotypes in accordance with those determined by the study organisers and the serological phenotypes. Despite an overall high level of accuracy in genotyping, the identified errors and inconsistencies, and the limited genotyping capabilities of many laboratories, confirmed the need for validated reference materials to control test procedures. CONCLUSIONS: The establishment of RBC1, RBC4, RBC5 and RBC12 as World Health Organization Reference Reagents will facilitate international standardisation of blood group genotyping and ensure that such tests are sufficiently sensitive and specific.

BRCA1 Testing: Genetic Counseling Protocol Development and Counseling Issues.

This article discusses the genetic counseling protocols which were developed and counseling issues that have arisen in the first 2 years of evaluating a large kindred with a BRCA1 mutation. The rationale for the development of the genetic counseling protocols and specific genetic counseling visual aids are presented and discussed. The protocols and counseling aids can serve as models for other programs offering cancer susceptibility testing. The observations of study counselors about study subject concerns and responses to genetic testing at the time of the pretest and posttest counseling sessions are presented.

An open trial of nefazodone in adult patients with generalized anxiety disorder.

Generalized anxiety disorder (GAD) is a chronic disorder for which a variety of medications have been prescribed. Nefazodone is a recently released antidepressant that potently antagonizes the serotonin type 2A receptor and blocks uptake of norepinephrine and serotonin. It also antagonizes the serotonin type 2C receptor. Studies suggest this action may be anxiolytic. Twenty-one patients meeting DSM-IV criteria for GAD enrolled in an open 8-week trial of nefazodone were monitored by the Hamilton Rating Scale for Anxiety and the Clinical Global impressions scale. Fifteen of the 21 subjects completed the trial; 12 (80%) were rated as either very much or much improved, 1 (7%) as minimally improved, and 2 (13%) as unchanged. None was rated as worse. Nefazodone may be useful and well tolerated in the treatment of GAD. Theoretical questions about the neurobiological basis of GAD are also raised.