Genetic counseling and testing, particularly for adult onset conditions, has become increasingly available over the last decade, and it is expected that this trend will continue as additional genes are identified and as such testing diffuses into mainstream clinical care. To meet the increased demand for services, it will become necessary to explore alternative avenues to traditional face-to-face genetic counseling. One such modality is the use of telephone genetic counseling (TGC), which is easy to implement and still allows for comprehensive service delivery. Although TGC has been used with increased frequency, there is a paucity of data about its effectiveness and impact on important patient outcomes. This paper provides an overview of the evolution of telephone counseling in nongenetics and genetics settings. The rationale and aims of the largest randomized clinical trial to be performed with this mode of counseling in the context of cancer susceptibility testing for mutations in the BRCA1 and BRCA2 genes are also explained. In addition, procedural aspects of the genetic counseling intervention and the novel tools developed to facilitate this process and to ensure adequate counselor training and quality assurance are described.

Download full-text PDF

Source
http://dx.doi.org/10.1089/gte.2006.0525DOI Listing

Publication Analysis

Top Keywords

genetic counseling
20
telephone genetic
8
brca1 brca2
8
counseling
7
counseling high-risk
4
high-risk women
4
women undergoing
4
undergoing brca1
4
testing
4
brca2 testing
4

Similar Publications

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 PDF

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 PDF

Hereditary haemorrhagic telangiectasia.

Nat Rev Dis Primers

January 2025

European Reference Network for Rare Multisystemic Vascular Disease (VASCERN), HHT Rare Disease Working Group, Paris, France.

Hereditary haemorrhagic telangiectasia (HHT) is a vascular dysplasia inherited as an autosomal dominant trait and caused by loss-of-function pathogenic variants in genes encoding proteins of the BMP signalling pathway. Up to 90% of disease-causal variants are observed in ENG and ACVRL1, with SMAD4 and GDF2 less frequently responsible for HHT. In adults, the most frequent HHT manifestations relate to iron deficiency and anaemia owing to recurrent epistaxis (nosebleeds) or bleeding from gastrointestinal telangiectases.

View Article and Find Full Text PDF

Li-Fraumeni syndrome: a germline splice variant reveals a novel physiological alternative transcript.

J Med Genet

January 2025

Univ Rouen Normandie, Inserm U1245, Normandie Univ, CHU Rouen, Department of Genetics, F-76000, Rouen, France

Background: Li-Fraumeni syndrome (LFS) predisposes individuals to a wide range of cancers from childhood onwards, underscoring the crucial need for accurate interpretation of germline variants for optimal clinical management of patients and families. Several unclassified variants, particularly those potentially affecting splicing, require specialised testing. One such example is the NM_000546.

View Article and Find Full Text PDF

Introduction: 22q11 deletion syndrome (22q11DS) results from a microdeletion on chromosome 22 and is the most common microdeletion disorder in humans, affecting 1 in 2148 live births. Clinical manifestations vary widely among individuals and across different life stages. Effective management requires the involvement of a specialized multidisciplinary team.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!