Over the last 20 years or so, the MDU has received a small but significant number of potential claims relating to the subject of genetic screening. Many of these claims allege or make reference to investigating a delayed diagnosis of the condition that is genetically detectible. Because of this, claims in negligence are generally made with regard to the alleged damage resulting from a failure to treat the condition caused by the delay in diagnosis.
Our understanding and ability to screen for the large number of medical conditions which have a genetic basis has changed enormously over the last couple of decades. Only recently, the British Heart Foundation announced that a new type of blood test has been developed that can screen for all known inherited heart condition genes. However, claims involving genetic screening have historically been a small minority of the number of claims the MDU receives. As the ability and expectation to further understand and detect genetic conditions changes, so will the likely nature of the claims.
An analysis of all cases open between 2005 and 2015 involving genetic testing demonstrates some expected findings. Firstly it shows there is no particular connection between the natures of any of these claims, other than the fact that genetic screening in some way is a factor. After all, genetic testing can be done in a variety of ways. Many of these tests involved adult patients themselves requesting screening, whereas others can involve prenatal testing or newborn screening.
Genetic claims involving carrier testing are not seen very often. This may be because there are few universal programs in effect that incorporate widespread indiscriminate screening. Not all foetuses are screened for cystic fibrosis, and a mother can choose whether or not to screen for Down's syndrome. The NHS has also adapted well with the times, appreciating the need for counselling, patient choice and the need for ethical analysis before establishing new screening tests.
Other reasons the MDU has not seen a particular increase in genetic claims may include patients' increased awareness of their family's medical problems, in which case they can specifically request testing in advance. This helps reduce the possibility of a potential claim, whereby it could be alleged a doctor should have sought to test a patient based on their family history.
Claims notified to the MDU
Between 2005 and 2014, the MDU was notified of a small number of claims in relation to genetic testing. A much larger number of cases involved requests for advice or dealing with complaints were brought to the attention of the MDU rather than claims.
This reassuringly demonstrates that members have sought our advice and our medico-legal team were likely successful in resolving issues related to the uncertain ground concerning genetic testing.
Out of the claims that have been closed by the MDU over this period, 75% were successfully defended. This was mainly due to the MDU's robust response to the allegations following investigations into these claims. Only 25% of claims required settlement.
There were a wide range of genetic conditions brought to the attention of the MDU, but only very few claims involved issues related to the involvement of testing. This may be contrary to any views that increased antenatal testing over the last two decades has meant increased medical claims.
The chart above shows the proportion of the different types of conditions related to the claims opened since 2005. Over 30% involved haemochromatosis, 20% involved Marfan's syndrome and 13% involved antenatal testing of Down's syndrome. Other repeated themes were claims involving adult diagnosis of neurofibromatosis (also 13%) and a further 20% involving other metabolic disorders, such as Alpha 1 antitrypsin deficiency or hyperoxaluria.
Over the last two decades there has been a large increase in claims generally, and similarly the number of claims involving genetic testing has increased, as the graph below shows (although this is still low). However, it's reassuring that there does not appear to be any proportionate increase in percentage of these claims being related to any form of genetic screening.
Comparing 2005 and 2015, there was little overall change in the total number of claims involving genetic screening brought to the attention of the MDU in that year – as the chart below shows, there were just two in 2005, and only five in 2015. 2013 saw the highest number of claims related to genetic screening (seven), but this still constituted a very marginal proportion of the total number of claims seen in that year.
Photo credit: Science Photo Library
The MDU was contacted several years ago by two GP members who had received a letter from a claimant's solicitors saying they had failed to inform a patient that he had Ehlers-Danlos syndrome. The claimant had found out about his condition after he asked to review the general practice records. It's unclear why the claimant chose to review his records; he may have decided he was unhappy with his medical management and chose to review the records himself, or he may have suspected his diagnosis.
The claimant noted that he had a documented history of hypermobility in a number of joints, and had been investigated for this and for shortness of breath when he was younger. The claimant's solicitors noted that both orthopaedic and cardiology clinic discharge letters to the GP had questioned whether the claimant may have had Ehlers-Danlos syndrome. Both the orthopaedic and cardiology consultants had decided that the claimant's symptoms simply required monitoring and no further investigations or treatment had ever been required.
As such, no formal diagnosis had been made and the claimant had visited his GP saying that both his breathlessness and his joint pain had either resolved spontaneously or were no longer bothering him.
Furthermore, the claimant had recently been seen by an ophthalmologist about his increasing myopia. The ophthalmologist noted epicanthal folds, loose sclera and angioid streaks, and suspected Ehlers-Danlos may be the cause. The ophthalmologist also raised concerns about the possibility of lens dislocation associated with Ehlers-Danlos syndrome and wrote a letter to the claimant's general practice.
A Letter of Claim was served upon our members alleging they'd failed to act on the discharge letters from the hospital consultants. It also alleged that they failed to properly examine the patient, and didn't appreciate the claimant's symptoms and refer the claimant on for appropriate investigations. The claimant's solicitors stated that this would have led to an earlier diagnosis of Ehlers-Danlos syndrome and earlier ophthalmological treatment could have prevented issues like lens dislocation.
The MDU sought the assistance of an independent GP expert who was supportive of the GPs, based on the minimal contact either of them had with the patient. The expert confirmed that a reasonable body of GPs wouldn't have requested that the claimant return to surgery for investigation of a condition that had only been queried by a specialist. Following expert advice from an ophthalmologist, the MDU also argued that even with earlier diagnosis, the outcome would remain unchanged.
A Letter of Response was served in answer to the allegations listed in the Letter of Claim, and the claim against our members was subsequently discontinued.
Although a significant number of MDU members have sought our assistance with queries relating to genetic testing, few of these have amounted to actual claims. This may well be in part due to the advice given by our medico-legal advisers and the actions of the members in response to this.
This is a rapidly expanding area of medicine and as screening increases, it is possible that claims related to screening may increase in future. However, it appears we are yet to see this theoretical increase. Despite the increase in assisted conception technologies, there is no apparent trend of increased claims with regard to foetal or antenatal testing.
We will continue to investigate claims brought against our members and offer advice and guidance where it's needed. We encourage you contact our medico-legal team with any questions at the earliest opportunity if there is any indication that a claim may be being pursued.
Dr Shabbir Choudhury
Senior medical claims handler
Dr Shabbir Choudhury
Senior medical claims handler
MBBS, DRCOG, DFFP, MRCGP, MA
Shabbir graduated from St George's University of London in 2002, qualifying as a GP in 2007. In 2010, he completed his MA in Medical Ethics and Law at King's College London. Shabbir continued to practice as a GP, and teach primary care ethics, until he joined the MDU in 2014. His main interest is the law and ethics of good Samaritanism.
See more by Dr Shabbir Choudhury