Genetic screening is, and will continue to be, subject to some controversy. The process of genetic screening involves the use of multiple DNA probes to test simultaneously for the presence of many different genetic disorders in a sample of blood or saliva, as well as establishing genetic susceptibility to a particular disease. Because of the ethical dilemmas associated with genetic screening, the process is usually accompanied by genetic counselling, a special form of social work where advice and information on screening results are given to patients and their relatives.
The purpose of this essay is to discuss the ethical issues surrounding genetic screening, specifically for diseases such as Tays-Sachs, Gaucher disease, and cystic fibrosis and to determine the biggest issues with the process.
Firstly, there is an issue around with whom the decision to undergo genetic screening lies. In the UK, for example, every year hundreds of thousands of newborn babies undergo a ‘blood spot test’ at around 5 days old. This test involves taking a small sample of blood from the heel of the newborn and testing it for nine different rare, but serious genetic conditions including sickle cell disease (SCD) cystic fibrosis (CF). This testing is completely optional to parents, however, they are often given pre-screening leaflet and engaged in a discussion with their midwife about the benefits of the process, to ensure that their consent is informed. Many people would argue that this decision should be taken out of the parent’s hands and be made compulsory, as the potential health ramifications of an inherited disorder not being identified (should the parents decide not to undertake the test) could be fatal for the child. The survival rate for cystic fibrosis, for example, is <50% over the age of 40. If the disease is identified early, however, then treatments can be given to reduce the symptoms and improve the life expectancy of the sufferer.
This argument is exemplified in the case of Tays-Sachs disease, an autosomal (non-sex linked) disorder that stops the function of nerves in the body. It is a homozygous recessive disease, meaning that if two people who are carriers (have the disease but it is not apparent) have a child, there's a 25% chance that the child inherits a faulty gene from both parents and develops Tay-Sachs disease. The disease is particularly prominent in Ashkenazi Jews (in the US alone, 1 in 30 are carriers), and as a result, organisations such as Dor Yeshorim offer screening to Jewish couples. Whilst this is not compulsory, it has ensured that the prevalence is now virtually non-existent, and shows how mass testing can help to eradicate genetic diseases.
Arguably, however, it is incredibly important that the decision for genetic testing lies with the parents. In the UK, our health system runs on a system of consent. In the case of a child, as they are under the age of 18, the parents assume responsibility for their healthcare and can make decisions regarding that. Autonomy, the capacity to make an informed, uncoerced decision, is one of the four pillars of medical ethics, and it is important that this is upheld. If a paternalistic system of healthcare is adopted, many would argue that we would have taken the first step on a slippery slope that gives doctors and healthcare professionals too much power over the decisions of patients.
Secondly, issues exist around the storage and distribution of the results of the genetic test. Once a test has been carried out, the doctor must maintain patient confidentiality, which is a confidence between the doctor and the patient that ensures the privacy of the patient is not jeopardised. Again, this is one of the key bases of medical ethics, and is put in place for a variety of reasons. Insurance companies, for example, have been known to increase costs as a result of a positive genetic result. As such, it is important that results are not shared with third parties without the consent of the patient. When asked by insurers, however, patients must disclose a health condition that has been diagnosed by genetic testing, but should not have to disclose the results of predictive genetic testing (testing to show if you’re more likely than other people to get a certain health condition in the future). However, one caveat does exist. If there is an immediate threat to the safety of others (to relatives, for example) then the results of a genetic test may be shared regardless of the wishes of the patient. In 2017, a case out to the Court of Appeal determined that it was “fair and just” for a doctor to have informed the daughter of a patient who had been diagnosed with Huntingdon’s disease, as it is an inherited disorder. As such, it must be ensured that confidentiality is broken as a last resort, but it is justified if necessary.
Additionally, important considerations must be taken in the storage of results. According to the NHS, “The data from your genetic test is stored locally. Data from whole genome sequencing is stored in a secure national database. Where necessary, information that can identify you, such as your name and address, is removed. Your data can only be accessed by approved staff.” This anonymising of patient data ensures that the risk of data breaches are minimised and the data is not shared with anyone outside of the NHS to ensure confidentiality.
Finally, wider societal issues around genetic screening exist. As genetic screening gets more specific, a result of screening prenatal babies may be aborted due to being identified as having a genetic disorder. This raises issues over genetic diversity and the fact that pregnancies may be terminated due to having a child with a genetic disorder; a very dangerous precedent that is, essentially, an offshoot of the practices of eugenics. It is even more important that pregnant women “do not make decisions about terminating a pregnancy based on a positive screening result alone without obtaining a diagnostic test to confirm or rule out a diagnosis”, according to Dr Andrea Greiner, a maternal and foetal medicine specialist at the University of Iowa, as screening is often inaccurate. Other scientists take a wider view that reducing genetic diversity in this way will lead to a reduction in the gene pool, and can reduce the influence of natural selection on the population. Arguably, however, we have already come beyond this point with advances in modern medicine (which, without, many alleles would not currently be in existence due to natural selection).
Overall, it can be seen that ethical issues will continue to exist around genetic screening; indeed, around many medical procedures. Time will only tell, however, how ethically sound this procedure will be into the future and there is a large burden on medical professionals on how we chose to utilise genetic screening that will determine its efficacy. Yet, if we continue to use screening in the same way that we have done in the past, the future should be easy to predict.