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.
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.
Dr Kathryn Leask
BSc (Hons) MBChB (Hons) LLB MA MRCPCH FFFLM MRCPathME DMedEth
Kathryn has been a medico-legal adviser with the MDU since 2007 and is a team leader, trainer and mentor in the medical advisory department. Before joining the MDU, she worked in paediatrics gaining her MRCPCH in 2002 and did her specialty training in clinical genetics. She has an MA in Health Care Ethics and Law, a Bachelor of Law and a Professional Doctorate in Medical Ethics. She is also a fellow of the Faculty of Forensic and Legal Medicine and has previously been an examiner and deputy chief examiner for the faculty. Kathryn is currently a member of the faculty’s training and education subcommittee and a member of the Royal College of Pathologists (medical examiner).
See more by Dr Kathryn Leask