Recording, using and sharing genetic information and test results: consent is the key in all medical specialties.

摘要

These statements are not wholly correct but were in wide circulation a few years ago. Some health professionals appeared to believe that genetic information in itself was different from other healthcare information and should be handled differently, or preferably not handled at all. Others believed that such matters were solely the province of the specialist genetic services. According to reports received by the Joint Committee on Medical Genetics, uncertainty appeared to be affecting clinical practice. The concerns of some health professionals appeared to be mirrored in public concern about the collection, storage and use of personal genetic information in general, but use for clinical purposes was strongly supported by the public. Clinical experience in genetics centres also stressed that the majority of individuals wished their genetic information to be used for the benefit of other family members.The majority of testing for single gene disorders and inherited chromosomal anomalies continues to be organised through regional genetics centres but patients are often identified through non-genetics colleagues. How should they deal with the implications of the result to the wider family? What is thestatus of a family tree taken from one family member, and can its information be shared? These are issues which involve all specialties dealing with patients with genetic disorders. How can they be incorporated into clinical practice?Fortunately, the Joint Committee on Medical Genetics set up a working party to review current clinical practice and to offer guidance and has just published its report, Consent and confidentiality in genetic practice: guidance on genetic testing and sharing genetic information. The Working Party carried out a questionnaire survey of genetics units in the United Kingdom, took medico-legal advice on current legislation and encouraged wide debate and consultation. As well as detailed guidance in the main text, flow charts summarise recommendations for clinical practice when requesting information and samples during a consultation and when sharing and disclosing genetic information. A third flow chart outlines the implications of the provisions of the Human Tissue Act 2004 for genetic analysis of stored samples or archival pathological material. Although the Working Party was set up in response to concerns from genetics professionals, the discussions and recommendations of the report are applicable to all specialties.