Precision health company Human Longevity announced it has published data in the journal Proceedings of the National Academy of Sciences(PNAS) demonstrating the ability of integrating whole-genome sequencing, imaging, and metabolomics to help identify adults at risk of specific health conditions.
“The goal of precision medicine is to provide a path to assist physicians in achieving disease prevention and implementing accurate treatment strategies,” said C. Thomas Caskey, M.D., chief medical officer for Human Longevity, Inc. and lead author of the study, in a press release. “Our study showed that by employing a holistic and data-driven health assessment for each individual, we are able to achieve early disease detection in adults.”
The study comprised 1,190 adults who self-referred to Human Longevity’s Health Nucleus program which provides patient-consumers with whole-genome sequencing, magnetic resonance imaging (MRI), and advanced metabolomic profiling to assess patients at risk for age-related chromic conditions including cancer, heart disease, diabetes, chronic liver disease, and neurological disorders.
According to the study titled, “Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging,” approximately one-in-six adults (17.3%) had at least one pathogenic genetic variant, which when integrated with deep phenotyping that included imaging, blood test and other analytical methods, one-in-nine (11.9%) had genotype and phenotype associations, supporting the clinical diagnosis of a genetic disorder.
Additional findings include:
- Insulin resistance and/or impaired glucose tolerance (34.2%)
- Elevated liver fat (29.2%)
- Cardiac structure or function abnormalities such as valvular disorders (16.2%)
- Significant calcified coronary artery plaque (calcium score > 100) (11.4%)
- Elevated liver iron (9.3%)
- Cardiac arrhythmias such as atrial fibrillation (6.1%)
- Cardiac conduction disorders (4.8%)
- Early stage tumors, most malignant (1.7%)
- A lack of phenotype and genotype associations were observed in 5.8% of individuals with pathogenic genetic variants, further suggesting that the identification of pathogenic genetic variant(s) by sequencing alone is not sufficient for a definitive diagnosis, highlighting the importance of a multi-modal assessment.
Genomics and metabolomics associations revealed 5.1% of heterozygous carriers with phenotype manifestations, affecting serum metabolite levels, suggesting that some genetic carriers may not be completely asymptomatic.
“This study shows that the definition of ‘healthy’ may not be what we think it is and depends upon a comprehensive health evaluation,” said J. Craig Venter, Ph.D., founder, Human Longevity in a statement. “The data underscore Human Longevity’s innovative approach to helping clinicians with early detection and personalized treatments, potentially achieving better health outcomes for patients.”