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Safeguarding consent and confidentiality in clinical genetic practice

26 September 2011
By Professor Anneke Lucassen and Alison Hall
Professor Anneke Lucassen works at the University of Southampton Faculty of Medicine and Wessex Clinical Genetics Service. Alison Hall is Project Manager for Law and Policy at the PHG Foundation.
Appeared in BioNews 626
Suppose you have just had a genetic test for a condition that you suspect runs in your family. Aside from the possible implications for your own health, could – or should – your results be used to help to interpret tests done on other members of your family?

Alternatively, how might you feel if your primary school aged daughter has a genetic test for a learning difficulty which reveals not only that she has a high likelihood of developing adult onset cancer, but that your husband has the same genetic abnormality, discovered incidentally but suggesting that he is at imminent risk?

Many of us are familiar with the rhetoric surrounding the potentially transformative power of genetics and genomics: the potential for such knowledge to improve health has become a familiar theme over the last decade since the sequencing of the human genome. Within health services, the main burden of translating genetic and genomic information into better health lies with medical genetics services. These services have traditionally focused on predominantly 'single gene' disorders, inherited in a monogenic fashion. However, they are now increasingly dealing with more complex multifactorial diseases. Whilst many areas of medical practice focus on the response to a set of symptoms, genetic practice often predicts the chance of developing certain symptoms or diagnoses in the future (although predicting the precise timing and severity of disease is still much more difficult).

Clinical genetics professionals are therefore particularly attuned to the need to involve their patients comprehensively in the process of testing and diagnosis, and also of the need to keep information – particularly predictive information – confidential. This has resulted in a medical modus operandi which places not only the patient, but also their family (to whom genetic information may be relevant), firmly at its heart. However, tension sometimes arises between this approach and that of other clinical specialities, highlighting the need for guidance that specifically addresses concerns about consent and confidentiality in genetic practice.

The ethical and legal challenges inherent in managing such sensitive personal information are explored in a new report, 'Consent and confidentiality in clinical genetic practice: Guidance on genetic testing and sharing genetic information', published by the Joint Committee on Medical Genetics (comprising the Royal College of Physicians, the Royal College of Pathologists and the British Society of Human Geneticists) (1). By using a set of worked examples based upon real – but anonymised – cases, including those described above, the report aims to guide health care professionals through the complex web of legislation and professional guidance relating to the use of genetic data and samples. It also highlights some points of friction between clinical genetics practice and the standards that operate in other disciplines. In part, these frictions have arisen as a result of the complexity of the regulatory environment; in our increasingly litigious age, professionals are rightly concerned that privacy should only be breached if there is legitimate cause.

The report envisages a more proactive approach to information sharing in which:

· Family history and clinical information are shared between relevant health professionals if appropriate to the health care needs of family members;

· Risks of disease are communicated to relevant family members (via an agreed route such as the general practitioner, genetic services or the patient). Such communication is particularly important where there may be potential to modify a genetic condition through medical intervention; and

· The approach to obtaining consent is robust and transparent, so that patients are informed in general terms about how their sample (and the information derived from it) might be used. Apart from use for relatives, this might also include using remnants of the sample for quality assurance or incorporating test results into national data sets.

Adopting a more systematic approach to data and sample sharing may necessitate new processes for seeking consent to genetic testing. The guidance elucidates a list of key topics that should be discussed as part of the consent process for genetic testing. They take account of these potential new processes, the wider scope of testing inherent in technologies such as whole genome sequencing, and the fact that these issues are likely to become directly relevant to mainstream medical specialties including general practice. It suggests that those obtaining consent should explicitly address:

· The benefits that might result to relatives from genetic investigations;

· A recommendation that relevant information be shared with relatives;

· The possibility of uncertain or unexpected findings from genetic testing and how these might be managed;

· The possibility of future testing to resolve current uncertainty.

As genetic technologies are disseminated more widely across many medical specialities it becomes more important for the attendant ethical and legal challenges to be discussed in a wider arena. This report provides a framework together with worked clinical examples which, it is hoped will be useful both to health care professionals and their patients.

1) Consent and confidentiality in clinical genetic practice: guidance on genetic testing and sharing genetic information, 2nd edn. Report of the Joint Committee on Medical Genetics: RCP, RCPath, 2011
Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics. |  09/11
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