In general practice these days we are increasingly aware of the contribution of genetics to everyday work. This is particularly true in cancers, where 5-10 per cent of breast cancer cases may be hereditary, generating the need for risk assessment, referrals, genetic counselling, genetic testing and surveillance.
Genes that increase susceptibility to cancer have been identified: breast and bowel cancers are obvious examples. The role of primary care is to make a risk assessment for their patients who may be relatives worried about their family history.
The assessment is made on producing a family pedigree based on collecting and interpreting family history data, together with knowledge of inheritance patterns. However, these clinical processes are not without ethical complications.
Consider the case study, right. This kind of consultation is going to become more common as genetic knowledge advances and passes into primary care. It generates a host of ethical issues, none of which is easy to resolve.
|Case Study: The GP's dilemma|
|Erica is 35 and a new patient. She consults her GP and explains her concerns over her risk of breast cancer. She has several family members who had cancers themselves.
Her GP constructs her pedigree chart and determines that her maternal grandmother, mother and maternal aunt all had breast cancer. Erica had already seen a clinical geneticist after finding out that her mother was carrying an altered BRCA1 gene before she died. Erica, after being counselled, elected to be tested and she too was found to be a carrier for the same gene.
Erica's sister, Eve, is also registered with the practice but they are estranged after a family row. Erica does not want any of this information discussed with her. She knows that Eve is not aware of the full family history nor the results of any genetic tests.
One way of looking at this case is to consider the nature of the information about Erica's genetic status. It is certainly personal, to her, and she feels that in light of the family circumstances she wants it to remain so.
Traditionally, doctors are bound by ethical codes that accord great respect to personal decision making, to the exclusion of virtually all other considerations. It is a measure of the importance of autonomous decision making in Western philosophy.
Under this principle, Erica would have control of her own medical care as regards her future breast care, and also the transmission of information about her breast care and genetic status to others.
It seems rather uncontentious. However, it has been said that there is something exceptional about genetic information, and that might colour the argument about this family's BRCA1 gene carrier status. Genetic information is sometimes blindingly obvious to all family members: this would be the case for hair colour, height and other polygenic factors.
An altered BRCA1 status is not physically apparent, but might become expressed as a breast or ovary cancer at some point in a person's life course.
So Eve might argue, if she knew about her mother's and Erica's carrier status, that their genetic status was intrinsically shared, and she should be aware of it if it was discovered.
The GP's duty
If this sort of claim is supported it has enormous ramifications: GPs and specialists would be under an obligation, or at least have an ability, to share genetic information with other family members.
Defining the limits and practicalities of such a process would not be easy.
GPs and primary care teams (and clinical geneticists) have the responsibility of looking after families. We should consider the GP's duty of care in this case. There is clearly such a duty to Erica, and it involves management of the immediate concern, among other things. We have heard that Eve is a registered patient, so there is a duty of care to her too.
This differentiates GPs from most specialists, who would not have a defined duty of care to Eve until she presented herself to them, or was otherwise referred. So in this case, does the duty of care to Eve extend to making her aware of a genetic status against the wishes of her estranged sister?
A useful way forward is to consider whether it is in her best interests to find out about the altered gene in the family. Most analyses of that term include reference to the degree of risk and the wishes of the patient; and the GP may have an idea about whether Eve would wish to know about her genetic status.
Is the possession of the altered BRCA1 gene likely to lead to serious health consequences? It would be a qualitatively different matter if a gene confirmed the risk of, say, freckles or piles.
In any event, if the GP uses Eve's best interests as a starting point, it will be a matter of professional judgment as to whether they are served by sharing information about another family member.
This discussion cannot be left without a consideration of the rights of the individuals. Rights are a key feature of ethics in the modern world.
Perhaps we could argue that Eve has a right to know about such important information about her, and if so we need to justify such a claim. It would be founded on the importance of such genetic information to her personal welfare and the implicit sharing potentially available within families.
It could not be overlooked that if a rights claim is entertained, that would confer a duty upon Erica or perhaps the GP to share the information.
After continuing discussions with health professionals, including the GP and genetic counsellors from the genetics centre, Erica finally agreed to notify her sister about the genetic test results.
Eve was subsequently referred to the regional genetic centre who, after providing genetic counselling and confirming the family history tested Eve looking for the altered BRCA1 gene. She was found not to be a carrier for the altered gene.
Dr Spicer is a GP and clinical tutor in medical ethics and law at St George's University of London, and Dr Rafi is a GP and senior lecturer in community health sciences at St George's University of London.
Genetics and breast cancer
- One woman in nine may develop breast cancer.
- Around 5-10 per cent of breast cancer cases are directly associated with known monogenic cancer predisposition syndromes.
- Inherited alterations in the BRCA1 and BRCA2 genes lead to a familial breast and ovarian cancer susceptibility syndrome.
- There is an 80 per cent risk of developing breast cancer and a 20-40 per cent risk of ovarian cancer in women carrying the altered gene.
- Affected families exhibit an autosomal dominant pattern of inheritance.
- There is a need for genetic testing and surveillance in affected families.