RCP: New advances prompt genetics guidance update

As genetic technologies advance both in terms of speed and reducing costs, more and more clinical applications are seen in the NHS. This brings many benefits for diagnoses, risk prediction and clinical management, but there are accompanying ethical and legal issues of managing information that is relevant to both the individual and their family.

A new report from the Royal College of Physicians (RCP), Royal College of Pathologists and British Society for Human Genetics explores these issues and sets out clear guidelines for healthcare professionals.

The report guides healthcare professionals through the complex mix of legislation that applies to the use of genetic data and samples. Included in the guidance are worked examples, based on real cases illustrating how complex situations can be dealt with in practice. A key focus of the report is to illustrate how the family can be important in what otherwise might seem to be individual decisions.

Key recommendations from Consent and confidentiality in clinical genetic practice: Guidance on genetic testing and sharing genetic information include:

Family history and clinical information should be shared if it is relevant to the healthcare needs of family members. Health care professionals can share relevant information with each other without breaching their duty of confidentiality.
Patients should be informed in general terms of what happens to their sample and the information from it. This includes explaining that samples may be important in quality control of other tests and that their results may be incorporated into national data sets which are vital for developing evidence-based care.
For some genetic diagnoses medical interventions can modify the condition and in such cases, attempts should be made to ensure at risk relatives are aware of their risk. Communication might be through the patient, the general practitioner or other genetic service.

The guidance contains a list of key topics that should be discussed as part of the consent process for genetic testing. These include:

The potential benefits of genetic investigation in one person to their close relatives.
The fact that communication of certain aspects of information to family members may therefore be recommended.
The possibility of uncertain or unexpected findings from genetic testing and how these might be managed.

The report includes flowcharts for guided decision-making and simple consent forms which can be adapted for use in different settings.

Anneke Lucassen, Professor of clinical genetics at University of Southampton said:

‘As genetic practice expands and is no longer the sole preserve of regional genetics services, the issues around consent and confidentiality are becoming directly relevant to mainstream medical specialities, including general practice.

‘Most patients attend genetic services at least in part to help their family members, but concern about consent and confidentiality means that many health care professionals are uncertain what they can or cannot disclose to family members. The guidelines make this more explicit and provide useful flow-charts and consent forms to record the wishes of the patient.’

Alison Hall from the PHG Foundation, a genetics policy think-tank, said:

‘Reliable information is the keystone to good practice in healthcare. Patients are content to undergo tests and to entrust confidential information to professionals in order to ensure that they get sound advice and treatment. The distinguishing feature in clinical genetics is that much of this information affects not only the individual patient but also other family members.

In this report we have identified some of the common uncertainties, and have described how health professionals can balance the interests of their patients and their relatives whilst still taking account of the requirements of the Data Protection Act 1998 and the Human Tissue Act 2004’.

Notes to editors

For further information or to arrange interview, please contact RCP communications officer, Andrew McCracken, on 0203 075 1354, 07990 745 608 or andrew.mccracken@rcplondon.ac.uk.

An embargoed copy of the full report is attached and will be available on the RCP website from 00:01 Monday 5 September 2011.

Throughout the report, the underlying ethical and legal principles are illustrated using hypothetical (but based on real) clinical cases to highlight key points. An example is given below:

Helen is referred to a genetic service by her general practitioner because she is concerned about her family history of breast cancer. She is not aware of any family members who have sought genetic advice or had genetic testing. However, through details of her family history, it is apparent to genetics professionals that a pathogenic mutation in BRCA1 has been identified in another member of her family, Angela, even though this information has not been disseminated to Helen. Predictive genetic testing would be more informative if the nature of the mutation could be disclosed to the laboratory performing Helen’s test. Using the genetic mutation from Angela to facilitate the test will not necessarily point to her. However, because the information is the result of Angela’s test, the health professionals involved believe the information is confidential and that they need to obtain consent from Angela to use the result for the benefit of Helen. Without consent they do not feel able to tell Helen about the familial mutation.

In such cases, the disclosure of Angela’s mutation details may be justifiable (especially if they can be de-identified) if they will substantially inform the choice of test to be offered to Helen, or modify her treatment, and if there is no evidence that Angela has refused or objected to her test results being shared.

Royal College of Physicians

The Royal College of Physicians (RCP) plays a leading role in the delivery of high-quality patient care by setting standards of medical practice and promoting clinical excellence. It provides physicians in the United Kingdom and overseas with education, training and support throughout their careers. As an independent body representing over 25,000 Fellows and Members worldwide, it advises and works with government, the public, patients and other professions to improve health and healthcare.

Royal College of Pathologists

The Royal College of Pathologists covers all aspects of laboratory medicine; including microbiology, immunology, haematology, clinical biochemistry, genetics and histopathology. It has over 10,000, members, including several Nobel Laureates, who work mostly in hospital laboratories, universities and industry worldwide.