Genetic and genomic testing bring many benefits to patients, but there may be pitfalls for doctors, as Dr Kathryn Leask explains.

Genetic testing has been part of patient care for many years. Where appropriate, it allows diagnoses to be confirmed, including those made antenatally, as well as predictive testing of patients for conditions such as breast cancer and Huntington’s disease. Carrier testing allows parents to have some control over their reproductive choices, particularly where they may have had a child previously affected by an inherited condition, such as cystic fibrosis.

While the use of genetic testing arms healthcare professionals and patients with information that will help them make choices about their care and about risks to their family, it has its own unique legal problems. With great emphasis now being placed on the importance of genetic and genomic testing in many areas of medicine, it is important that all healthcare professionals are aware of the potential pitfalls.

New generation testing … may also bring up unexpected results and those which were not anticipated…

Traditional genetic testing often involves looking for single gene mutations in order to establish whether or not a patient has a particular genetic condition or whether they are a carrier, which may put them or their offspring at risk. New generation testing, genomic testing, analyses a patient's whole genome, and may identify more than the relevant mutated gene - it could also bring up unexpected results, including those not anticipated, specifically ordered or discussed with the patient. These need careful interpretation and a decision needs to be made whether or not they should be communicated to the patient.

There are a number of areas where legal issues may arise as a result of genetic testing.

Diagnosis

Diagnosing genetic conditions does not always involve performing laboratory tests in order to confirm the diagnosis. A patient's phenotype may indicate that a genetic condition is present and therefore diagnosis may depend on a physical examination or, in the case of prenatal testing, an in-utero ultrasound scan. Failure to diagnose a patient, either by failing to identify relevant characteristics on examination or failure to identify or interpret genetic results, could lead to legal action. This may occur where abnormalities are not picked up, for example, or where the significance of them is not recognised.

In the case of prenatal testing, this may deny prospective parents the opportunity to make reproductive decisions about their pregnancy, such as whether or not to opt for a termination, or it may prevent them from appropriately preparing for the birth of a disabled child. In other situations, failure to make a diagnosis may result in patients not being screened appropriately or being offered preventative surgery - for example, those patients with genetic mutations which predispose them to developing certain types of bowel and breast cancer.

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Interpretation of genetic test results

It is important that cytogenetic and molecular genetic test results are correctly interpreted to ensure that patients receive accurate information about their risks, particularly where different mutations in the same gene may result in a different phenotype, risk or the need for a particular type of follow-up.

New generation tests may not only identify mutations in genes which we expect or predict to find in a patient, but also other changes which may be more difficult to interpret. Careful thought has to go into whether or not patients or prospective parents are informed of these findings. This can create a very difficult situation for healthcare professionals, where there may be no way of knowing the significance of the finding. It is possible that the incidental finding is a variation of normal and therefore of no consequence to the patient.

On the other hand, the genetic change may be of significance, in which case patients may need to be told that a change has been observed, but with no information to inform them of what this might mean. This could be particularly difficult in prenatal testing where any concern raised about the foetus’ genome is likely to cause a great deal of anxiety.

With new genome sequencing it is hoped that medical care will become more personalised, allowing earlier and more accurate diagnosis to be made and better care to those with conditions like cancer. It is hoped that treatment will be more effective as it will be individualised for the patient's needs and the use of specific medication and their dosages will be tailored to the particular patient. This will all depend, of course, on the correct interpretation of results.

Failure to offer genetic testing

It is obviously a patient's choice as to whether they want to have genetic testing done. Whether or not it is offered may depend on their risk, and of course that the risk is identified at the outset. A patient may have an increased risk of a particular condition for a number of reasons, including their family history, environmental factors or their age.

A claim for clinical negligence could arise where a risk has not been identified and testing or screening not offered, and that patient suffers as a consequence. For example, a female patient presenting in early pregnancy may disclose a strong family history of mental retardation. If the clinician is not alert to this, the offer of appropriate referral to genetics services and testing for mental retardation syndromes (such as Fragile X syndrome) will not be made available to the patient.

Failure to return results

This is clearly a problem that can arise for any type of test, not just results of genetic tests. A patient may come to harm where results are requested but not returned, or returned and not acted upon. It is important that there are robust systems in place to ensure that when a test is requested, it is followed up appropriately and any necessary action taken in a timely manner. 

Failing to advise patients of the outcome of genetic tests may result in them missing out on vital preventative screening or being offered the option of prophylactic surgery. Similarly, prospective parents may go ahead with their plans to start a family, unaware of the fact that there is a risk of an inherited genetic condition in their offspring.

Categories of claims

Where prenatal testing has taken place, there is the possibility of claims arising from misinterpretation of results or the failure to offer testing where appropriate. 'Wrongful birth' claims arise where a prospective mother is not advised of a condition that might affect a future pregnancy, or may be affecting her current pregnancy, and therefore is not given the option of deciding whether to conceive or to continue her pregnancy. If a child is subsequently born with a disability as a result of the condition, a claim may be pursued.

Conclusion

Genetic and genomic medicine is a constantly changing and developing field. As patient care becomes more personalised - with pharmacogenetics, for example, where medications are prescribed based on a patient's individual genome - there is the potential for more medico-legal and ethical questions to be raised. The MDU will continue to assist members in managing any risks as they arise.

This page was correct at publication on 01/12/2015. Any guidance is intended as general guidance for members only. If you are a member and need specific advice relating to your own circumstances, please contact one of our advisers.