Dr Shabbir Choudhury examines cases from the MDU files relating to genetics testing, to better understand some of the issues involved in this expanding field.

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.

General breakdown

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.

Analysis of genetics claims

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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.

Analysis of genetics claims

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