Reality not hype: the new genetics in primary care 

Session III: workshops

4. Ethics of predictive testing

Facilitator: Ainsley Newson (London IDEAS Genetics Knowledge Park)

Presentation

The presentation highlighted:

•  the differences between pre-symptomatic (relative certainty about the probability of developing a condition given a positive result) and susceptibility testing,

•  the rationale of increasing uptake of preventative interventions,

•  the notion of patient control, including the ability to make lifestyle changes, after predictive testing,

•  the difference between genetic and other medical tests was considered, key concepts being knowledge about a future condition and family implications,

•  the tensions arising from the varying predictive power and levels of uncertainty associated with test results.

Dr Newson gave ‘five hints for ethics debate’, which outlined how participants could approach the scenario discussed in this workshop, and which they could also apply to situations they are confronted with in practice:

1. identify issue(s) and frame as ethical questions
2. identify stakeholders – their interests and preferences
3. workshop potential solutions to the dilemma
4. formulate an argument about what should happen
5. consider implications for clinical practice – is the solution workable?

The scenario:

“Rachel is a GP in South London. She has been treating 45 year-old Gloria (and her family) for 15 years. Gloria reports that several members of her family have developed breast cancer in recent years and that a mutation had been identified in her sister, Claire. Gloria expresses interest in being tested. Rachel refers Gloria to a clinical genetics service for counselling.”

Discussion

The participants broke up into small groups, each addressing one of the following questions:

1.

Should genetic tests such as that for BRCA1/2, which have a low clinical validity and no effective intervention, be available? For anyone who wants it? Who should provide testing?

2.

Imagine that Gloria carries a BRCA mutation. Rachel (the GP) also treats Gloria’s 19 year-old daughter, Amy. Amy is worried about her family history of breast cancer and is interested in finding out her risk; however she is not aware that her mother has been tested. How would you approach this problem?

Each group then reported back to the workshop as a whole.

Question 1:

Positions taken varied from “No, nobody, no one!” (although primary care workers are “forced to make a pragmatic decision rather than an ideal one”) to referral “only through the NHS” and if the individual had received a proper risk assessment and good back-up support for people receiving tests is available. The possibility that both risk assessment and back-up support will move into the domain of specialist GPs was raised.

There was support for the view that this kind of testing should not be available to everyone who wants it, and that commercial (over-the-counter) testing should be discouraged due to the dangers of being tested without adequate counselling.

The facilitator asked the workshop if their view might change if Gloria was obviously well informed and insisting on taking a test. Some groups maintained that the resources available and principles of risk categorisation would mean they would still refuse a test. Making an opposing argument, one delegate suggested that having lots of breast cancer within the family could mean there was less need for counselling, and that it could be seen as paternalistic to refuse a test. Examples like this illustrate the tensions between respecting individuals’ autonomy/being non-directive, and dealing with one’s own professional views which may not coincide with an individual’s.

Test costs were discussed. Quotes given were US$2760 for predictive BRCA testing (for relatives of known mutation carrier) in the USA, £400 per genotype and £100 per mutation detection at Manchester. NICE has estimated the real cost to the NHS for an initial screen at £800.

One group focussed their discussion on shared decision making between professionals and individuals. They highlighted issues about unknown parentage which can be thrown up by genetic testing.

Question 2:

The disadvantages for Amy to take a test at her age were agreed, and include: suboptimal treatment options, long-term consequences for a young girl starting medication, and associated anxiety.

It is difficult to uphold both the mother’s and the daughter’s right to confidentiality while at the same time ensuring that Amy’s worries are addressed. The majority of groups discussing Question 2 came to the consensus that it would be unethical to tell the mother about Amy’s consultation or vice versa.

It was suggested that Amy should be encouraged by the GP to put off her decision about testing. The facilitator reported that clinical geneticists commonly see girls around 16 years old, and that the geneticists are often successful in persuading them to take their time reaching a decision about testing. Whatever the outcome of a test, monitoring would not begin until their 30s. Referral for counselling and risk assessment without testing was suggested as a positive way forward.

One delegate suggested that the GP could invite Amy to talk to her mother or to have a joint consultation but in general this course of action was deemed by the rest of the group to be too direct and risked confidentiality. There was a feeling that if the GP knows the family well, they are well placed to decide whether encouraging Amy to pursue general discussion within the family will work, i.e. she might find the reassurance she needs without taking a test. Another option discussed was for the GP to ask Gloria whether she has talked to her family about her test results.

In addition, it was suggested that practical advice for the future about reducing risk should be given to Amy e.g. breast feeding for as long as possible.

Another delegate reported that the genetics centre in which she works had contacted an estranged mother to ask if her genetic test result (showing no mutation) could be shared with her daughter for reassurance. In this case the mother agreed. The balance of benefits (reassurance for the daughter) and harm (breaking confidentiality in telling the mother that the daughter had had a consultation) have to be considered in each case.