MTHFR C677T and A1298C are the most clinically relevant fertility variants in consumer genomics. Reduced MTHFR activity impairs the conversion of folic acid to 5-methyltetrahydrofolate — directly affecting neural tube development, DNA replication during rapid cell division, and homocysteine clearance. MTHFR status is the primary determinant of folate supplementation protocol in preconception and pregnancy.
Premutation and intermediate alleles in FMR1 (Fragile X Mental Retardation 1) associate with premature ovarian insufficiency and diminished ovarian reserve — affecting the timing and urgency of fertility planning. FMR1 screening is relevant for women with family history of POI or unexplained infertility considering egg freezing or IVF.
PAI-1 (SERPINE1) 4G/5G polymorphism affects fibrinolysis in the uterine lining. The 4G/4G genotype elevates PAI-1 activity — reducing fibrinolytic activity in the endometrium and increasing the risk of implantation failure and recurrent pregnancy loss. Targeted anticoagulation protocols can address this genetic risk when identified preconception.
FSHR (FSH receptor) variants affect sensitivity to follicle-stimulating hormone — the primary driver of follicle development. The Asn680Ser variant predicts ovarian response to FSH stimulation in IVF protocols — a directly actionable finding for patients and clinicians planning controlled ovarian stimulation.
Factor V Leiden (F5 R506Q) and prothrombin G20210A are the most common inherited thrombophilias — associated with elevated risk of recurrent miscarriage, preeclampsia, and placental insufficiency. Identification before or during early pregnancy allows for monitoring and preventive management decisions.
MTHFR variants in men affect sperm DNA integrity and methylation quality. SOD2 and CAT antioxidant variants affect sperm motility and oxidative damage — informing antioxidant supplementation protocols for male fertility optimization alongside female preconception preparation.
MTHFR genotype-specific folate supplementation recommendations — the difference between folic acid (inactive) and 5-MTHF (bioactive) for preconception and early pregnancy. The single most actionable fertility genomics finding for the majority of users.
FMR1 intermediate allele status and associated ovarian reserve risk — giving women the genetic context to make informed decisions about fertility planning timing and the urgency of specialist consultation.
PAI-1, thrombophilia, and implantation-relevant variant profiling — identifying the genetic risk factors for implantation failure and recurrent pregnancy loss that can be addressed through targeted clinical intervention when identified preconception.
A comprehensive preconception supplement framework — methylfolate, methylcobalamin, antioxidants (CoQ10, vitamin E, zinc, selenium), and omega-3s — calibrated to the specific genomic risk profile rather than generic preconception supplement lists.
Whether you're building a fertility app, a preconception clinic, or a women's health platform — let's discuss how genomic fertility intelligence integrates into your product and user journey.