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Letting family members know about genetic conditions; how and when?

10 January 2011
By Professor Anneke Lucassen and Dr Emy Lucassen
Anneke Lucassen is Professor of Clinical Genetics, University of Southampton and Emy Lucassen holds an MA in Medical Law and Ethics, a PhD and is a Freelance Writer
Appeared in BioNews 590
Advances in genetic and genomic research mean that the identification of a genetic condition or a genetic susceptibility to disease is increasingly becoming a routine part of health care. Many more highly predictive genetic tests are available today than there were just a few years ago and for some conditions (for example, certain types of cancer or heart disease), there are proven surveillance or prevention strategies which can reduce morbidity or mortality.

As is often the case with medical progress, these developments have brought ethical and legal questions in their wake. For example, where do the professional's responsibilities lie in communicating diagnostic and predictive genetic information to a patient's family members, perhaps especially so if they are also patients? A patient may wish to retain confidentiality, but the professional's legal and ethical duty of confidentiality is not absolute since it is balanced by a duty of disclosure under certain circumstances.

The tension between confidentiality and disclosure is heightened in clinical genetics because of the shared nature of genetic information. Genetic tests reveal information that affects not only the individual patient but also other family members who might benefit from knowing the medical options available; making informed decisions about parenthood, or from the reassurance that they have not inherited a familial genetic risk.

The question of whether, when and how to communicate with family members has occupied clinical geneticists as a profession, and navigating these poorly charted waters has been the particular focus of the Joint Committee on Medical Genetics (1), which will shortly issue revised guidance on consent, confidentiality and information sharing in genetic practice.

Historically, genetic tests in the UK have been performed mainly by regional genetic services - a series of NHS funded clinics to which individuals or families can be referred for the investigation of inherited conditions. Such services are used to dealing with families - indeed they often hold family rather than individual case notes - and initial questioning usually includes the names, ages and health of other family members.

Patients are usually encouraged to communicate relevant test information to family members and it is not unusual for patients to attend a genetic service with at least a partial aim of also helping others. Such communication may occur without help from health professionals but at times, perhaps where family members are not in close contact, or because of concerns to protect people from distressing information, or through fear of stigmatisation, relatives may remain in ignorance.

In such circumstances it can be very difficult for the health professional to know what information can be disclosed or utilised. There is often a tension between the duty of confidentiality, the rights of relatives to be notified of significant genetic information, and the extent to which individuals or service providers might be responsible for notifying them. Another factor in this equation is that relatives may regard unsolicited provision of information about a genetic disorder as an invasion of their own privacy, with potential adverse consequences such as distress or discrimination.

It is not unusual for health professionals to be referred individuals to whom they could provide more accurate information, but concern about breaching the confidentiality of another may deter them from doing so. Helpfully, the General Medical Council guidance on confidentiality (2) indicates that disclosure may be acceptable if relatives may learn of potential genetic risks. However, the situations covered by this guidance describe only what may be justified if consent to disclosure has been actively withheld. In practice, such situations are relatively rare. It is more common for the health professional to be uncertain about whether a patient has adequately consented to the familial sharing of the result of a genetic test.

Ideally, the confidentiality/disclosure dilemma would be pre-empted by ensuring that patients consent to the disclosure of any relevant and potentially beneficial information to other family members before embarking on any genetic testing. Addressing the possible need for familial communication routinely at the consent stage, and appropriately documenting valid consent to such disclosures, would provide clarity and certainty to the health care practitioner.

Where consent to disclosure was not sought or provided, consideration needs to be given to whether it might be legitimate to use the genetic information in question anyway - particularly if it is possible to avoid disclosing the identity of the individual in whom it was found: 'We know you have a strong family history of condition X and a genetic test Y will tell you what your risk is'. But it is important to recognise that such information does not necessarily provide anonymity.

More fundamental questions will also need to be answered. For example, is using privileged information - knowledge of one person's genetic status - to guide appropriate testing in another, really disclosure at all, or simply the appropriate laboratory investigation of a family with a history of a genetic condition?

As genetics enters mainstream medical practice, these questions deserve wider consideration. Guidance will be needed about whether boundaries of confidentiality may be extended beyond the individual to include family members. Of course there will be no one rule that fits all. Defining the circumstances in which disclosures might be ethically and legally acceptable involves weighing up many factors, such as the significance of the genetic information, the severity of the condition, the availability of treatment and possibility of prevention.

The challenge for health professionals involved in genetic investigations, is to devise a process that addresses the diverse and competing needs of respect for information obtained from one person as well as the potential benefits in disseminating relevant information to family members.
1) Human Genetics Commission: Inside Information - Balancing interests in the use of personal genetic data
|  28 September 2021
2) General Medical Council: Confidentiality
GMC |  2009
3) Joint Committee Medical Genetics: Consent and confidentiality in genetic practice: guidance on genetic testing and sharing genetic information (Revised guidance due 2011)
Joint Committee on Medical Genetics of the Royal College of Physicians, Royal  College of Pathologists and British Society for Human Genetics |  2006
4) Lucassen and Parker Confidentiality and sharing genetic information with relatives
Lancet May 1; 375(9725):1507 - 1509 |  2010
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