Non-invasive prenatal testing: UK genetic counselors' experiences and perspectives.

To date, NIPT in the UK has been predominately used in the health service for early sexing of pregnancies at known risk of sex-linked conditions. Developments in the technology are broadening its use to diagnostic testing for paternally inherited genetic conditions and for detection of aneuploidy. This study aimed to examine the experiences of UK genetic counselors with offering NIPT for sexing, and to explore their views on future uses of the technology.

Experiences of predictive testing in young people at risk of Huntington's disease, familial cardiomyopathy or hereditary breast and ovarian cancer.

While debate has focused on whether testing of minors for late onset genetic disorders should be carried out if there is no medical benefit, less is known about the impact on young people (<25 years) who have had predictive testing often many years before the likely onset of symptoms. We looked at the experiences of young people who had had predictive testing for a range of conditions with variable ages at onset and options for screening and treatment. A consecutive series of 61 young people who had a predictive test aged 15-25 years at the Clinical Genetic Service, Manchester, for HD, HBOC (BrCa 1 or 2) or FCM (Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy), were invited to participate.

The Department of Health-supported genetic counsellor training post scheme in England: a unique initiative?

Although the professional title 'genetic counsellor' has wide international recognition, formal courses or training programmes in genetic counselling exist in only a small number of countries. In 2002, voluntary registration of genetic counsellors in the UK began under the auspices of the Genetic Counsellor Registration Board. Practitioners are eligible for registration after 2 years of genetic counselling practice and prior attainment of either a nursing or midwifery qualification with relevant Bachelor's degree or a Master's degree in genetic counselling.

The clinical management of relatives of young sudden unexplained death victims; implantable defibrillators are rarely indicated.

Objective: Following national guidance on management of sudden unexplained death (SUD) in the young, inherited cardiac conditions (ICC) clinics were established to identify and treat relatives thought to be at increased risk. Studies have examined diagnostic yield of these clinics but outcome of clinical management has not been reported.

Design: Observational outcome study of consecutively referred relatives of SUD victims.

Extended family impact of genetic testing: the experiences of X-linked carrier grandmothers.

In many cases, X-linked conditions are transmitted through families "silently" until the first affected individual is diagnosed. Grandmothers are often then tested to help determine the risk to other family members. To date, psychosocial research on carriers of X-linked conditions has focused primarily on mothers and sisters of affected males.

Explaining Mendelian inheritance in genetic consultations: an IPR study of counselor and counselee experiences.

The explanation of Mendelian inheritance is a key component of most genetic counselling consultations, yet no evidence base exists for this area of practice. This qualitative study used Interpersonal Process Recall (IPR) to explore how information about X-linked inheritance is provided and received in genetic counseling. Twelve consultations involving two senior genetic counselors and 21 counselees were videotaped.

Genetic professionals' reports of nondisclosure of genetic risk information within families.

Patients attending genetic clinics are often the main gatekeepers of information for other family members. There has been much debate about the circumstances under which professionals may have an obligation, or may be permitted, to pass on personal genetic information about their clients but without their consent to other family members. We report findings from the first prospective study investigating the frequency with which genetics professionals become concerned about the failure of clients to pass on such information to their relatives.