Consent is the key in the recording, use and sharing of genetic information and test results

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  'You can't draw and record a family tree without the permission of all the members shown on it - the Data Protection Act won't allow it'

  
  
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  'Medical confidentiality won't allow my laboratory to release a DNA result to allow genetic genetic testing to be offered to another family member'.

  
  
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  You can't take blood from an adult with mental incapacity for a genetic test just to help other members of the family'

These statements are not wholly correct, but were in wide circulation a couple of years ago. Some health professionals appeared to believe that genetic information should be handled differently from other healthcare information, or preferably not handled at all. As the Joint Committee on Medical Genetics was receiving reports that uncertainty was adversely affecting clinical practice, it set up a working party which undertook a questionnaire survey of genetics units in the UK, took medico legal advice on current legislation and encouraged wide debate and consultation. The final report, 'Consent and confidentiality in genetic practice: guidance on genetic testing and sharing genetic information', offers detailed guidance and includes summary flow charts for clinical use when requesting information and samples, and when sharing and disclosing genetic information. A third flowchart outlines the implications of the provisions of the Human Tissue Act 2004 for genetic analysis of stored samples or archival pathological material. Although the majority of genetic testing continues to be organised through regional genetics centres, the report identifies issues relevant to all specialities.

Sharing genetic information or genetic test results

The accepted principles of medical consent and confidentiality underpin the uses of personal genetic information in clinical practice. There are additional issues to consider, however, particularly when pedigree information and genetic test results need to be shared for the benefit of other family members, and these are discussed fully in the report. Several are highlighted below.

Consent versus confidentiality

Where consent for sharing genetic information, samples and test results has not been requested, or its extent is unknown, genetic testing for other family members can be compromised. Attempting to verify past consent or newly seeking consent from the information or sample donor is considered the optimal situation, but this may not be possible because contact has been lost or may not be clinically appropriate because the family member seeking information may be concerned about compromising his or her confidentiality - for instance, a pregnant relative wishing to undertake prenatal diagnosis.

As in several other situations outlined in the report, a clinical judgement has to be made case by case about the balance of harm to family members - a balance between seeking consent and preserving confidentiality. There may be good reason to believe that more harm may result to a family member by not using the DNA sample or test result, than would result to another member through their use without confirmation that consent had been granted. By routinely requesting and documenting consent to share information and use stored samples, such situations will be avoided; the Joint Committee asks those ordering a genetic test or recording a detailed pedigree to encompass these in consent discussions. This is particularly important as the Human Tissue Act 2004 requires that consent has been obtained specifically for the use of cellular material to assist in the care of relatives. A handwritten note in the medical records is sufficient, or a signed consent form may be used.

Disclosure of genetic information

The Information Commissioner gave advice that information on a family pedigree can be passed between health professionals if necessary for medical purposes without the explicit consent of all those shown on the pedigree (Schedule 3, Data Protection Act 1998). The person giving the pedigree, however, should be informed that it may be used to determine mode of inheritance, and shared with family members and health professionals if clinically appropriate.

Recommended good practice is to release only information relevant to the clinical purpose - showing names on only part of a pedigree, or  releasing technical information about a 'family mutation' rather than personal information about the sample donor.

Medical information is sometimes needed about deceased family members. Medical records departments may use their discretion under the Access to Health Records Act 1990 to disclose medical information upon request from a blood relative of a deceased person where there is a risk of an inherited genetic disorder.

Adults with mental incapacity

Most people are willing to undergo genetic investigations to assist family members, even if they derive no direct benefit themselves. The Genetic Interest Group argue strongly that it should not be presumed that an adult with incapacity would be less altruistic, and many people with learning difficulties have the capacity to consent if time is spent explaining the issues in simple language. When considering the taking of a sample from an adult with mental incapacity to aid the wider family, the benefit to the incapacitated adult must be clearly identified (which might include the positive effect on the care of the adult through wellbeing of the relatives) and it should not be possible to obtain same genetic information through tests on other family members. The report discusses these issues and the genetic testing of children.

To obtain a copy of the report, priced 15 pounds (17 pounds overseas), please visit the Royal college of Physicians (RCP)'s website.