An expert consensus panel has recently promoted genetic testing for Familial Hypercholesterolemia (FH) as a standard of care for patients with probable FH, as well as for their relatives. As outlined inan articlerecently published in the Journal of the American College of Cardiology (Sturm et al 2018), this common and potentially fatal condition is treatable, yet is vastly underdiagnosed due to low uptake of genetic testing procedures. Even those with premature symptoms of coronary disease often go undiagnosed.
The facilitation of genetic cascade testing for family members of known FH patients, or those with a family history of high cholesterol or early heart attack, would allow for FH to be detected and treated prior to any coronary event.
In a comment toGenomeWeblead author Amy Sturm concluded that “Diagnosing and treating FH in childhood reduces the risk of early heart disease by about 80 percent, which is why it’s so important to find families with FH and especially children who have this invisible, life-threatening genetic disorder. In addition, understanding the exact genetic mutation can better inform the initiation and treatment of FH with more intense lipid-lowering therapies and ultimately improve outcomes.”
Since individuals with FH have a reduced ability to remove LDL-cholesterol from blood, without genetic testing they will rarely be flagged or identified until later in life when arterial build-up and narrowing becomes problematic. By identifying and treating this condition early, the risk of heart disease, stroke, or coronary events can be greatly reduced.
The increasing affordability of next generation sequencing opens up the possibility for more accessible FH testing, allowing clinicians to both: identify risk to family members of those known to have FH, and clearly define those who have FH from among those displaying high cholesterol or premature coronary disease, improving personalised prognosis and treatment. The below process flow outlines the steps recommended by the authors.