Invitae Genetic Testing for Osteoporosis
Invitae does not offer a specific genetic test marketed for osteoporosis screening or risk assessment. The provided evidence does not reference any Invitae-specific osteoporosis genetic testing panel, and current clinical guidelines do not recommend genetic testing as a standard diagnostic or screening tool for osteoporosis.
Why Genetic Testing Is Not Standard for Osteoporosis
Osteoporosis is a complex polygenic disorder where genetic testing has limited clinical utility. The disease involves multiple genes, each contributing modest effects, making single-gene or panel testing impractical for routine clinical management 1, 2.
- Heritability is high (up to 80% of bone mineral density variance), but identified genetic variants explain only a small portion of this variation 1, 3.
- More than 80 genes or genetic variants have been implicated through genome-wide studies, yet these collectively account for minimal BMD variation 3.
- The molecular basis of osteoporosis remains largely undefined despite identification of candidate genes like vitamin D receptor, estrogen receptor, and collagen type I alpha 1 1, 2.
Current Standard Diagnostic Approach
Dual-energy X-ray absorptiometry (DXA) remains the gold standard for osteoporosis diagnosis, not genetic testing 4, 5.
- DXA measures bone mineral density at the lumbar spine and hip, with osteoporosis defined as T-score ≤ -2.5 4, 5.
- Family history is assessed clinically rather than through genetic testing 4.
- Maternal history of hip fracture shows association with vertebral deformities (adjusted OR 1.3), but this is obtained through clinical history, not genetic analysis 4.
Role of Family History vs. Genetic Testing
Clinical assessment of family history is more practical and cost-effective than genetic testing for osteoporosis risk stratification 4.
- The FRAX tool incorporates family history of hip fracture as a clinical risk factor without requiring genetic testing 4.
- Studies on family history and low BMD show mixed results, with the relationship being inconsistent 4.
- Genetic testing for individual candidate genes has shown inconsistent associations across different populations 1, 2.
When Genetic Testing Might Be Considered
Genetic testing may only be relevant for rare monogenic forms of osteoporosis or when part of broader hereditary syndrome evaluation 4, 1.
- Single-gene mutations causing osteoporosis are rare exceptions to the typical polygenic pattern 2.
- Multigene panels are used in cancer predisposition syndromes but not routinely for osteoporosis 4.
Clinical Pitfall
Do not delay standard DXA screening while pursuing genetic testing, as DXA directly predicts fracture risk and guides treatment decisions 4, 5. Only 6.7% of patients undergo DXA evaluation within 6 months of a fragility fracture, representing significant underutilization of proven diagnostic tools 4, 5.