OBJECTIVES Epilepsy genetics has undergone a revolution in the past 19 years since the discovery of the first gene for epilepsy. The story of our increasing knowledge and how it impacts on patient care is presented with reference to recent discoveries. Understanding the significance of a genetic variant is challenging both in terms of molecular pathogenicity and in how this finding fits into th...

The aim of this study was to develop a patient-reported outcome measure (PROM) for clinical genetics services. Previous research was used to develop a draft 84-item questionnaire, which was completed by 527 members of patient support groups. Responses were subjected to exploratory factor analysis (EFA). Parallel analysis was used to identify the number of factors to extract using oblique rotati...

PURPOSE: To identify the approximately 12% with inherited cancer predisposition, all men metastatic prostate (mPC) should be offered germline genetic testing. This guides treatment choices and impacts prevention in family. Limited services globally present a barrier to study tested potential solution, “mainstreaming,” where counseling testing are performed by patient’s oncologist. PATIENTS AND ...

The pedigrees of 192 subjects at risk of Duchenne or Becker muscular dystrophy, myotonic dystrophy, or balanced chromosome translocations attending three regional genetic clinics were inspected to identify relatives who were themselves at high risk of these disorders. Of the 342 relatives eligible for inclusion, 43% (63/147) of the register relatives and 26% (50/195) of the non-register relativ...

BACKGROUND After congenital heart disease, neural tube defects (NTDs) are the most common serious structural birth defects in human infants. OBJECTIVES To (i) determine the recurrence risks of NTDs in the population of Gauteng; (ii) investigate some of the risk factors shown to be important in the occurrence of NTDs in other populations; and (iii) determine their relative importance in the ae...

Clinical genetics has established itself as a medical practice in which patients are addressed primarily as individuals who have to make informed choices (Bosk ; Steendam ). Historically, centres for clinical genetics in the Netherlands have a privileged position in offering genetic counselling and genetic testing, and function as “gatekeepers” for those seeking genetic consultation and...

PURPOSE Adrenocortical carcinoma (ACC) is an endocrine malignancy with a poor prognosis. The association of adult-onset ACC with inherited cancer predisposition syndromes is poorly understood. Our study sought to define the prevalence of Lynch syndrome (LS) among patients with ACC. PATIENTS AND METHODS One hundred fourteen patients with ACC were evaluated in a specialized endocrine oncology c...