Sue Richards

TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.

TL;DR: In determining the propriety of any specific procedure or test, the clinical molecular geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

TL;DR: The background of the project, the meeting and its recommendations, which addressed all areas of human genetics relevant to collection of information on variation and its effects, are summarized.

TL;DR: This update of the ACMG technical standards for CFTR variant testing reflects changes in the available technologies and the limited phenotypic knowledge of rare variants.

TL;DR: The availability and scope of PT/EQA for molecular genetic testing for inherited conditions in Europe, Australasia, and the United States is reviewed to evaluate the successes and demonstrated value and to examine the challenges to the provision of comprehensive PT/ EQA posed by new laboratory practices and methodologies.