A new research analysis highlights how adult genomics increasingly influences modern medical practice, especially in identifying and managing hereditary conditions. Prof. Fowzan S Alkuraya, Chief Medical and Genomics Officer at Lifera Omics, examines these findings through a large-scale Saudi patient group comprising 2,763 individuals across multiple sites.
The study found that clinical exome and genome sequencing achieved a diagnostic rate identical to what is observed in pediatric cohorts. This suggests that an adult patient is just as likely to have an underlying disease-causing change in their DNA as a pediatric patient when there is a high index of suspicion.
Diagnostic Yield and Error Correction
Establishing a genetic diagnosis is the first step in realizing the benefits of Precision Medicine. Having a precise genetic diagnosis puts an end to an otherwise very costly and lengthy diagnostic process, enables a management plan that is driven by established natural history data in the literature, and makes accurate genetic counselling for reproductive options possible.
Prof. Alkuraya notes that the key trigger for genomic testing is not a specific organ label, but rather when the clinical story does not fully fit the usual diagnosis. In the study, a positive family history and consanguinity were associated with higher diagnostic yield, which helps clinicians refine whom to test earlier.
The study also reports diagnostic errors in a large proportion of positive cases, with 38% of patients with positive reports having a clinical diagnostic error. This matters because labels shape downstream decisions, and genomics can correct the label and place the patient on a more accurate and safer clinical pathway.
Clinical Utility and Actionability
The study found clinical utility in 90% of positive cases, meaning the result was not just academically interesting, but helped clinicians make better decisions. Utility can mean changing surveillance, refining prognosis, guiding treatment and management, improving family counselling, or enabling reproductive planning.
When assessing actionability, the study found that 26% of positive reports involved conditions with a treatment or management recommendation.
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Prof. Alkuraya emphasizes the need for population-specific reference data in variant interpretation, particularly in populations with higher rates of consanguinity and founder variants. Local reference data can improve variant interpretation and reduce uncertainty.
In the study, 45.5% of encountered variants were absent from gnomAD, which shows that global databases are still not truly global. This is a clinical equity issue, as precision in Precision Medicine cannot be achieved if the data it depends on excludes large parts of the world’s population.
Lifera Omics is working to deliver clinically actionable insight in a way physicians can use, by integrating wet-lab sequencing, bioinformatics interpretation, secure data infrastructure, and clinically oriented reporting. The goal is to make genomic medicine a reliable clinical tool that supports everyday decision-making.
Prof. Alkuraya notes that the future is multi-omics, connecting genomic data with transcriptomics, proteomics, metabolomics, deep phenotyping, and EMR data to build a more dynamic understanding of disease biology. Artificial intelligence will be essential in making this usable for clinicians, particularly in supporting pattern recognition and prioritizing signals.
The study’s findings have implications for clinicians, who should treat genomics as a clinical tool that can clarify the diagnosis and guide management, rather than a last-resort test after years of uncertainty. By integrating genomics into the differential diagnosis for selected patients, clinicians can improve diagnostic precision, correct errors, and often have actionable implications.
The study’s results are based on a multisite Saudi cohort of 2,763 patients, and the findings have been published in the journal Genomic Medicine. The reference for the study is Fowzan S. Alkuraya, Khadijah Bakur, Halima Hamid, et. al., Adult genomic medicine: lessons from a multisite study of 2700 patients, Genomic Medicine, 17:105 (2025), and can be found at https://doi.org/10.1186/s13073-025-01529-2.
In the context of the study, 61% of diagnosed phenotypes were recessive, and 94.6% of those were homozygous.
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