The utility of molecular diagnostics in clinical practice has been steadily increasing and is expected to continue to do so as the applications of genomic medicine increase. The goal of this article was to describe the roles and responsibilities of genetic counselors who work in the customer service area of molecular diagnostics laboratories. In this role, genetic counselors provide recommendations to clinicians on issues that are specific to DNA-based testing. This article will address some issues that are specifically relevant to disease genetic tests. Many molecular diagnostic laboratories employ genetic counselors, who have extensive training in how to communicate genetic information, to provide information in the preanalytic, analytic, and postanalytic stages of testing. To maximize the quality of the service, it is important to establish an understanding of what can be expected of both the practitioner and the laboratory genetic counselor. Although some complications in the laboratory cannot be anticipated, discussing the case with the laboratory genetic counselors beforehand may avert certain problems. This article discusses real cases from laboratory genetic counselors to illustrate issues that arise due to technical difficulties and the inherent limitations of molecular testing. The summary describes practical ways in which clinicians and laboratory personnel can work together to either avoid or, when unavoidable, better manage problems and delays. The responsibilities of genetic counselors working in molecular diagnostics are discussed.
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http://dx.doi.org/10.1097/GIM.0b013e31817283a5 | DOI Listing |
Ann Thorac Surg Short Rep
December 2024
Department of Thoracic Surgery, International University of Health and Welfare Narita Hospital, Narita, Japan.
Advanced-stage atypical carcinoid tumors are seldom seen in the teenaged population. Comprehensive care, extending beyond mere cancer treatment, is essential. A 16-year-old boy received a diagnosis of a 13-mm nodule in the left S lung segment with signs suggesting interlobar pleural indentation.
View Article and Find Full Text PDFAnn Thorac Surg Short Rep
June 2024
Department of Cardiothoracic Surgery, St Francis Hospital, Roslyn, New York.
We present the case of a 72-year-old man diagnosed with an aortic root aneurysm who was then diagnosed with Marfan syndrome. The patient suffered an intraoperative type B dissection with lower extremity malperfusion managed with an axillary-bifemoral extra-anatomic bypass.
View Article and Find Full Text PDFOncotarget
December 2024
The FDA approval on September 29, 2023, for "class III " blood tests to assess hereditary cancer risk make widely available tests that may be obtained through a Direct to Consumer (DTC) path. There is concern that germ-line predisposition tests may not be reimbursed by insurance adding financial burdens to individuals and families. It is generally agreed in the fields on oncology and genetics that germ-line testing for disease susceptibility including cancer is best performed under care of a healthcare provider with genetic counseling.
View Article and Find Full Text PDFAlzheimers Dement
December 2024
Columbia University Irving Medical Center, New York, NY, USA.
Background: The IDEAL study is a randomized clinical trial investigating the psychosocial, behavioral, and cognitive impacts of genetic risk disclosure for late-onset Alzheimer's disease (LOAD) among Latinos.
Methods: We used address-based sampling in northern Manhattan to recruit Latinos aged 40-64 for a community-based survey and clinical trial. Data collection encompasses demographics, Alzheimer's disease (AD) family history, knowledge and beliefs about AD and genetics, current mental health status, acculturation, impact of COVID-19, familism, fatalism, caregiver status, and prior AD genetic testing.
Introduction: APOE (apolipoprotein E) genotyping determines an individual's risk of developing Alzheimer's disease and unique pathological characteristics vital to treatment consideration. The presence of the ε4 allele is considered a dose-dependent risk factor for late-onset Alzheimer's disease, with each additional copy of the allele adding to the risk. Genetic counseling and education are essential as disclosure can lead to psychosocial issues, employment issues, and family stress.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!