Genetic Testing for Dyslipidemia in Children – Ethical Challenges and Dilemmas

The expanding appreciation of genetics by researchers, by clinicians and the general population goes hand in hand with the acknowledgement of its role in a multitude of diseases. However, each newly developed genetic test raises conflictual concerns in medicine, public health and social policy regarding the medical approaches under which the test would have a valuable role, and what are the uses of its results.

Genetic understanding is well defined for dyslipidemias, a collection of metabolic disorders which is characterized by high levels in the blood of lipoproteins, HDL, LDL and triglycerides (TG). The transmitted differences among families underlie the variation of lipid phenotypes and susceptibility to dyslipidemia. Disorders of lipid metabolism caused by genetic mutations along with other acquired risk factors are common in children. The nature of clinical features is often multifactorial and complex. While some show clinical signs and symptoms, children with genetic mutations, such as familial hypercholesterolemia (FH), are asymptomatic and generally normal weight, but increased cholesterol throughout life plays a key role in the progression of atherosclerosis from childhood and increases the risk of developing cardiovascular diseases such as myocardial infarction and stroke.

When considering FH, one of the most common monogenic diseases, there are unique benefits in identifying the causal genetic variant of patients under the age of 18^th, because the presence of elevated levels of persistent cholesterol formed on an early age leads to the formation of atherosclerosis and participates in its progression towards adulthood. When identifying a child at risk, disease prevention is done through proper assessment, early formation of a healthy lifestyle, and appropriate medication to lower lipids. The risk can be greatly reduced in order to prevent future events related to atherosclerotic cardiovascular disease¹.