Genetic test for thyroid disorders
"Reality is bigger and bitter than you think!"
Why is it important in the first place when patients can take hormone analogues?
5 out of every 1 00 people are either carriers of thyroid dysfunction genes or living with thyroid dysfunction signaling waiting for the inception of genetically predisposed disease/s (1 and2). There are several reasons for undermining the underlying familial thyroid disease and the associated signals. Number one of course is lower penetrance (awareness per se) of clinical genome wide association studies on genetically predisposed diseases and genes.
Secondly, blood test with Hyper/hypothyroidism is under looked prescribing medications for life without even trying to verify whether the disease signature is due to inherited disease causing/pathogenic variants involved in the dysfunction of thyroid gland and or an early warning/signal for a disease yet to be manifested in the future. The only way to find out is by sequencing the variants that the patient has inherited.
Classic Scenario: One of many!
Physician prescribing T4 (Levothyroxine or T 3 orT4/T3 combo without understanding the patient’s genotype on DIOI and TSHR genes on SNPs- rs225014, rs225014 and rsl 991517 respectively makes the treatment futile. Since the patient’s genotype does not prefer the treatment and it worsens the predisposed disease. TSHR genes rsl 991517 is involved in insulin resistance and bone density, just by prescribing the thyroid hormone analogues will not solve the condition because the patient’s genotype on rsl 991517 is ready to dispose mammoth insulin resistance and bone density related conditions in the patient (PMID: 22147956).
In the ideal world, hypothyroidism treated with levothyroxine would make the patient’s feel good however, early warning to insulin resistance, Osteoarthritis and Insulin resistance are ignored. This is one of the several examples of early warnings ignored and trying to give transient relief when the main disease is manifested.
Classic Scenario: One of many!
