Genotype Error: A brewing form of Medical Negligence
Updated: Dec 23, 2022
With the numerous “Know your Genotype” campaigns around the Country, one would think that the burden of Sickle Cell Disorder will have significantly reduced in Nigeria but this is not the case as Nigeria still has the highest number of People with Sickle Cell Disorder in the World. 150,000 Children are born annually with Sickle Cell Disorder in Nigeria.
One major reason for the rise in the number of People with Sickle Cell Disorder is Error in Genotype testing which has led to strain and financial hardship in many families. Genotyping Error occurs when the genotype determined after molecular analysis does not correspond with the real genotype.
The Most Common method of Genotype testing used by laboratories is the haemoglobin electrophoresis method because it is less expensive. However, it has its limitations because not all haemoglobin variants are detectable by this method.
There has been an increase of reported cases of genotyping errors in couples which has led to a significant rise in Sickle Cell Disorder births. Genotype Errors pose a significant burden on Couples and their children. It has led to disaffection and breakdown in many marriages as a result of the high cost of caring for a child with Sickle Cell Disorder and frequent hospital visits that causes a financial strain on the Parents. Recently, we had an experience in the course of implementing the ACT Foundation funded “Kit-A-Warrior project”. We met a couple who were on the verge of divorce because they had given birth to a Child with Sickle Cell Disorder. Before they got married, their genotype result had read that the Man’s genotype was AS while the Lady was AA ; the result which turned out to be false. We counseled them on the need to stay together to jointly care for the wellbeing of the child. We also advised them on the available options to take so as to prevent giving birth to children with Sickle Cell Disorder in future.
There is an urgent need for the government to regulate the incidence of Genotype error in Nigeria by enacting a legislation that will ensure Compulsory licensing, routine inspection and Proficiency testing of all Clinical Laboratories. This is to ensure that standards of quality are being met. It is important for the Government to mandate that all Genotype tests performed by laboratories should pass through the three phases of the Quality Assurance Program which are the pre-analytic, analytic and the post-analytic stages.. There also needs to be a compulsory Proficiency testing of laboratories , which is an external assessment to monitor the Laboratory’s performance. Regulatory and professional bodies should identify consistently poor performing laboratories and ensure that timely corrections are taken are documented. There is also the need for legislation to impose punitive sanctions on laboratories that produce false genotype test results like closure of the Laboratories and ensuring that they pay huge compensations to the victims of False genotype results. This will serve as a deterrent to other Clinical Laboratories as the lives of many people are at stake due to their negligence.
Clinical Laboratories need to employ more innovative and accurate genotype testing methods such as Isoelectric focusing and High Performance liquid chromatography (HPLC). They also need to invest in modern and quality laboratory equipment in order to improve efficiency in genotype screening. The Government needs to partner with private Clinical Laboratories to make the modern genotype screening methods more affordable. It is important to inform intending couples about the various screening methods available as well as their benefits and limitations.
Intending couples should also ensure that they carry out their genotype tests in more than one laboratory to verify the authenticity of the genotype results. This will ensure that the burden of Sickle Cell Disorder in Nigeria is significantly reduced.
About the Contributor
Winifred Otokhina is a Lawyer and the Chief Operations Officer of TonyMay Foundation. An organization committed to the care, awareness and advocacy for people with Sickle Cell Disorder in Nigeria.