Literature DB >> 15810917

A framework for genetic service provision for haemophilia and other inherited bleeding disorders.

C A Ludlam1, K J Pasi, P Bolton-Maggs, P W Collins, A M Cumming, G Dolan, A Fryer, C Harrington, F G H Hill, I R Peake, D J Perry, H Skirton, M Smith.   

Abstract

This framework document offers guidance to patients, doctors, nurses, laboratory scientists, funders and hospitals on the provision of clinical and laboratory genetic services for haemophilia. With recent advances in molecular laboratory techniques it is now possible to give the vast majority of individual patients and family members very reliable genetic information. To enable these genetic data to be used for both the optimal treatment of patients with inherited bleeding disorders and for appropriate reproductive decisions in carriers, there needs to be a clear and robust framework for systematically acquiring the necessary clinical, personal, family and laboratory information upon which decisions can be made. This document provides guidance on the range and standards of clinical and laboratory genetic services which should be offered to patients and their families. Included are arrangements for genetic counselling and testing (including consent and confidentially issues), management of early pregnancy, standards for laboratory genetic services, as well as advice on data storage, security and retrieval.

Entities:  

Keywords:  Genetics and Reproduction

Mesh:

Year:  2005        PMID: 15810917     DOI: 10.1111/j.1365-2516.2005.01070.x

Source DB:  PubMed          Journal:  Haemophilia        ISSN: 1351-8216            Impact factor:   4.287


  3 in total

1.  Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe.

Authors:  Heather Skirton; Celine Lewis; Alastair Kent; Domenico A Coviello
Journal:  Eur J Hum Genet       Date:  2010-05-05       Impact factor: 4.246

Review 2.  Pregnancy in special populations: challenges and solutions practical aspects of managing von Willebrand disease in pregnancy.

Authors:  Ozlem Turan; Rezan Abdul Kadir
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2021-12-10

3.  Adolescent carrier testing in practice: the impact of legal rulings and problems with "gillick competence".

Authors:  Paula Boddington; Maggie Gregory
Journal:  J Genet Couns       Date:  2008-08-29       Impact factor: 2.537

  3 in total

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