Our tenth major clinical whole-genome report release expands on Alzheimer’s genetic risk, pharmacogenomics, and health and wellness traits.

Whole-genome sequencing establishes a genomic baseline that can be reinterpreted as scientific evidence and clinical guidance evolve.

A broader view of Alzheimer’s genetic risk

APOE is an important genetic risk factor for late-onset Alzheimer’s disease—but it is only one part of the genetic picture. GCR v10 introduces a dedicated Alzheimer’s Disease Risk assessment that brings together:

• APOE status: Phased E2, E3, and E4 genotypes provide information about a patient’s APOE-associated risk.
• Polygenic risk: A 20-variant polygenic model provides additional information about common genetic variation associated with Alzheimer’s disease susceptibility.
• Hereditary disease risk: Whole-genome analysis can also identify rare pathogenic variants associated with hereditary forms of Alzheimer’s disease, including genes such as APP, PSEN1 and PSEN2.

Together, these complementary sources of genetic information can provide physicians with a broader picture of a patient’s inherited genetic risk and additional context for patient counseling and clinical discussions.

Genetic risk should always be considered alongside age, family history, clinical findings, lifestyle, and other established risk factors.

Expanded pharmacogenomics coverage

GCR v10 expands the Simplify Genomics pharmacogenomic assessment from 19 to 27 genes and from 135 to 224 medications. The expanded coverage provides physicians with additional genetic information that may help inform medication efficacy and risk of adverse effects across multiple areas of care.

New and expanded insights include:

• Cholesterol treatment — New PCSK9-related pharmacogenomic coverage, including evolocumab, alirocumab, and inclisiran.
• Cancer treatment — Expanded pharmacogenomic information relevant to efficacy and toxicity across oncology medications.
• Pain management — New OPRM1 reporting for morphine and expanded CYP3A4 coverage including fentanyl.
• Medication safety — 89 additional medications across multiple therapeutic areas.

Pharmacogenomic evidence and guidelines continue to evolve. With a whole-genome baseline, existing genomic data can be reanalyzed as that knowledge changes.

Health and Wellness Updates

GCR v10 introduces three new health and wellness insights that can provide additional genomic context for patient care.

Genetic associations related to GLP-1 receptor agonist response
Certain variants in the GLP1R gene have been associated in published studies with differences in glycemic and weight-loss response to GLP-1 receptor agonists, providing additional genomic context that may be considered alongside established clinical factors when discussing treatment.

Non-alcoholic fatty liver disease susceptibility
Genetic variants associated with increased susceptibility to NAFLD, such as rs738409, can provide another piece of information to consider alongside metabolic, laboratory and lifestyle risk factors.

SERPINE1 4G/5G polymorphism
Published studies have reported associations between the SERPINE1 4G/5G polymorphism and venous thromboembolism and myocardial infarction, providing additional genomic context that may be considered alongside established clinical risk factors.