There are substantial issues in applying this type of genetic screening for severe hypercholesterolemia to clinical practice.
- One issue, of course, is the availability of Clinical Laboratory Improvement Amendments
(CLIA)-compliant sequencing of the LDL receptor and the other genes;
- A second issue is cost and reimbursement - this is not a procedure that has classically
been reimbursable;
- A third issue concerns the question of actionability: exactly how will the results impact on
the physician's decision to treat the patient?
All of these issues will impact how this field might develop - although
perhaps of primary importance is the clear implication that more needs
to be done in terms of proving that genotyping leads to actionability
that actually benefits the patient.
