Aim: To examine current practice of genetic counselling by nurses.

Background: Recent debate argues that genetic counselling is a specialist advanced practice role, whilst others argue it is the role of all nurses. Current evidence is required to determine if genetic counselling could be included in all nurses' scope of practice.

Design: Integrative literature review.

Data Sources: A search of electronic databases (CINHAL, Medline, PubMed, Scopus), and reference lists published between January 2012 and March 2017, was undertaken.

Review Methods: Studies were critically appraised for methodological quality using the Critical Appraisal Skills Programme. Data from each study were extracted and categorized according to their primary findings.

Results: The inclusion criteria were met in 10 studies. Main findings were identified: role of genetic counselling, current knowledge, need for further education, and client satisfaction with nurse genetic counsellors.

Conclusion: This paper concludes that some nurses do engage in genetic counselling, but how they engage is not consistent, nor is there consensus about what should be the scope of practice. Further investigation into credentialing, role recognition support and education for nurse genetic counselling are strongly recommended. As nurses are widely available, nurses can make a significant contribution to supporting those affected by genetic problems.

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijn.12629DOI Listing

Publication Analysis

Top Keywords

genetic counselling
28
genetic
9
current practice
8
practice genetic
8
nurse genetic
8
counselling
7
nurses
5
current
4
counselling nurses
4
nurses integrative
4

Similar Publications

Rationale: This study investigates the genetic cause of primary infertility and short stature in a woman, focusing on maternal X chromosome pericentric inversion and its impact on offspring genetic outcomes, including deletions at Xp22.33 and Xp22.33p11.

View Article and Find Full Text PDF

Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.

Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.

Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.

View Article and Find Full Text PDF

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

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!