Hypercholesterolemia presents a high and preventable risk for premature adverse cardiovascular events. Although genetics is among its commonest causes, Familial Hypercholesterolemia (FH), which involves pathogenic variants in the LDLR, APOB, and PCSK9genes affecting 1 in 311 people globally, is still underdiagnosed as Genetic Testing (GT) and Cascade Testing (CT) suffer a low uptake. The suggested read for this month: “Facilitators and Barriers to Uptake of Genetic and Cascade Testing in Familial Hypercholesterolemia: a Systematic Review”[1] examines the barriers and facilitators to the uptake of genetic testing and cascade testing for familial hypercholesterolemia. The review synthesizes findings from 15 studies (9 qualitative, 6 quantitative) involving 272,954 participants, mostly from high-income countries and clearly identifies the following barriers and facilitators for GT and CT:
| BARRIERS | |
| Genetic testing | Cascade testing |
| – Financial concerns | – Disconnect from family |
| – Suboptimal clinical care | – Emotional costs |
| – No/low perceived value | – Low perceived value |
| FACILITATORS | |
| Genetic testing | Cascade testing |
| – Family history of illness | – Responsibility to family |
| – Being well informed | – HCP support |
| – Understanding the value | – Family treatment |
The authors express the following recommendations:
For genetic testing: improving the perception of testing value, addressing financial concerns and streamlining clinical workflows for pre- and post- test care. For cascade testing: develop resources to help probands manage their family communication including emotional resilience training and digital tools to ease the burden of CT invitations.
More generally, the risk management related to FH – through standardized protocols, multidisciplinary teams and genetic counseling – has to be better integrated into the healthcare systems, which implies public policy changes at government levels.
This review reminds us how much communication, both on the individual and systemic levels is key to overcome these barriers, while science and technology are ready. We’re happy, on our level, to contribute to this communication effort.
We at 4bases have developed a diagnostic solution for the assessment of FH, called FH panel, including the previously-mentioned (LDLR, APOB, and PCSK9) genes and 6 other genes. Discover the FH panel on: https://4bases.ch/panel-technology/
[1] Lenin C, Lim PXH, Nastar A, Subramaniam T, Pek S, Daccord M, Evans E, Print E, Chan FHF, Griva K. Facilitators and Barriers to Uptake of Genetic and Cascade Testing in Familial Hypercholesterolemia: a Systematic Review. Int J Behav Med. 2025 Apr 8. doi: 10.1007/s12529-025-10357-y. Epub ahead of print. PMID: 40199835.
