Test Code 87108
Test Details
Polygenic Risk Map™- Female Complete
Boston Heart’s Polygenic Risk Map test is a genetic test that leverages Polygenic Risk Score (PRS) analysis and reporting. The resulting risk scores provide clinical insights into a variety of important health conditions.
Methodology
Illumina Infinium Global Screening Array technology
Patient Preparation
None
Preferred Specimen
Saliva
Alternate Specimen
Whole blood
Transport Temperature
Room temperature
Stability
6 months at room temperature
Lab Values
Polygenic Risk Map™- Female Complete
Polygenic risk scores included in the Female Complete Panel:
- Coronary Artery Disease (CAD) – Leading cause of death.
- Stroke – 5th most common cause of death in the US.
- Atrial Fibrillation – 5-fold increase in stroke risk.
- Type 2 Diabetes – 3-fold increase in CAD risk.
- Hypertension – Causes CAD, stroke, and kidney disease.
- BMI – Increases risk of CAD, diabetes and some cancers.
- Triglycerides -Increases risk of CAD and pancreatitis.
- Low HDL Cholesterol – Increases risk of CAD.
- High LDL Cholesterol – Increases risk of CAD.
- Lipoprotein (a) – Increases risk of CAD and aortic stenosis.
- Alzheimer`s Disease – The leading cause of dementia.
- Inflammatory Bowel Disease (IBD) – Ulcerative colitis and Crohn’s disease risk.
- Breast Cancer – A leading cause of cancer in women.
- Ovarian Cancer – Hormone driven cancer in women.
- Brain Cancer – Difficult cancer to diagnose.
- Pancreatic Cancer – Difficult cancer to diagnose in early stages.
- Kidney Cancer – Cancer that responds well to early intervention.
- Melanoma – Early screening for those at high risk.
- Osteoporosis – A common cause of bone fractures.
- Early Menopause – Risk of menopause before age 45.
- Psoriasis – Auto-Immune skin disorder.
- Celiac Disease – Auto-Immune gastrointestinal disorder.
- Ancestry – Based on 26 global populations.
Clinical Significance
Polygenic Risk Map™- Female Complete
- Risk scores are determined by numerous well-studied genetic variations, and allow for impactful and targeted application of genomic testing to personalized medicine.
- High-risk individuals generally have a substantially increased relative genetic risk for these conditions as compared to low-risk subjects.
- Because lifetime risk of these conditions are also substantially influenced by environment, lifestyle, and medical care, a greater understanding of genetic risks may lead to greater preventive efforts.
- Cost effectiveness studies suggest that providers can reduce cardiovascular events and healthcare system costs by using polygenic risk scores in appropriate patients.1
- This type of testing is meant to augment rather than replace standard risk factor assessments for cardiovascular disease, breast cancer, prostate cancer or other conditions.
References:
- Mujwara D, Henno G, Vernon ST, et al. Integrating a Polygenic Risk Score for Coronary Artery Disease as a Risk-Enhancing Factor in the Pooled Cohort Equation: A Cost-Effectiveness Analysis Study. J Am Heart Assoc. 2022;11(12):e025236
Treatment Options
Polygenic Risk Map™- Female Complete
Genome-guided prevention by personalization of:
- Dietary choices
- Physical activity
- Environmental factors
- Medical care and screening
- Medication
