Two Gold Standards? Where the “old” is genetic matching, and the “new” is epistemologically akin to circumstantial evidence.

The underlying molecular defect of FH consists of mutations in the gene coding for the LDL-receptor protein, detection of which provides the only unequivocal diagnosis. ~ Aalst-Cohen, et al.[1]

The importance of establishing the identity of a causative mutation in an index case lies in the certainty that it provides an unequivocal diagnosis in that family, thereby permitting the identification of affected family members at a much younger age and optimizing the health benefit accruing from initiation of treatment as early as possible. ~ Liyanage, et al.[2]

A molecular diagnosis, i.e. demonstration of a pathogenic mutation in the LDL receptor gene, therefore establishes an unequivocal diagnosis. ~ Fouchier, et al.[3]

The gold standard of diagnosis is the identification of the underlying genetic defect, which is possible in 80% of cases and enables the identification of affected relatives of the index patient. ~ Klose, et al.[4]

That was before. In the bottom right, we observe Jane Stock — a for-hire Medical Writing Consultant who worked on many EAS projects, including the 2013 and 2014 EAS reports.  On linkedin.com her job description reads, “All aspects of writing; working with KOLs on peer-review manuscripts and advisory and boards, and strategic publication planning are specialties.”  This advertisement is for services greater than just technical writing.

Two Gold Standards? Where the “old” is genetic matching, and the “new” is epistemologically akin to circumstantial evidence.

[1] Diagnosing familial hypercholesterolaemia: the relevance of genetic testing, Emily S. van Aalst-Cohen, et al.

[2] Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution, Khemanganee E. Liyanage, et al

[3] The molecular basis of familial hypercholesterolemia in The Netherlands, Sigrid W. Fouchier, et al.

[4] Familial Hypercholesterolemia: Developments in Diagnosis and Treatment, Gerald Klose, et al.