title: A framework for genetic service provision for haemophilia and other inherited bleeding disorders.
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.
authors.affiliation: Department of Haematology, Royal Infirmary, Edinburgh, UK. christopher.ludlam@ed.ac.uk
authors.forename: C A
authors.initials: CA
authors.lastname: Ludlam
authors.forename: K J
authors.initials: KJ
authors.lastname: Pasi
authors.forename: P
authors.initials: P
authors.lastname: Bolton-Maggs
authors.forename: P W
authors.initials: PW
authors.lastname: Collins
authors.forename: A M
authors.initials: AM
authors.lastname: Cumming
authors.forename: G
authors.initials: G
authors.lastname: Dolan
authors.forename: A
authors.initials: A
authors.lastname: Fryer
authors.forename: C
authors.initials: C
authors.lastname: Harrington
authors.forename: F G H
authors.initials: FG
authors.lastname: Hill
authors.forename: I R
authors.initials: IR
authors.lastname: Peake
authors.forename: D J
authors.initials: DJ
authors.lastname: Perry
authors.forename: H
authors.initials: H
authors.lastname: Skirton
authors.forename: M
authors.initials: M
authors.lastname: Smith
mesh_terms: D000328:Adult; D002648:Child; D005190:Family; D005260:Female; D005817:Genetic Counseling; D033142:Genetic Services / Q000458:organization & administration*; D006467:Hemophilia A / Q000235:genetics*; D006470:Hemorrhage / Q000151:congenital / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D016247:Information Storage and Retrieval / Q000379:methods; D007258:Informed Consent; D007400:Interprofessional Relations; D007753:Laboratories; D008297:Male; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000628:therapy; D011296:Prenatal Diagnosis / Q000379:methods