In this interview, Prof Fowzan S Alkuraya, Chief Medical and Genomics Officer at Lifera Omics, speaks to Middle East Health about the diagnostic and clinical value of adult genomics, drawing on a multisite Saudi cohort of 2,763 patients. He discusses diagnostic yield, error correction and actionability, the need for population-specific reference data in variant interpretation, and the roles of multi-omics and artificial intelligence.
Q1: Middle East Health: Adult genomics is often discussed less than paediatric genomics. Why does it matter for clinicians?
Prof. Fowzan Alkuraya: For a long time, genetics was largely viewed as a paediatric discipline. That perspective made sense historically, as many severe genetic disorders present early in life. However, that created a blind spot in adult medicine where individuals may live for years with an underlying genetic diagnosis without it being recognized or even considered.
In our recent multisite Saudi cohort study of 2,763 adult patients, clinical exome and genome sequencing achieved a diagnostic rate identical to what we observe in paediatric cohorts. This is a powerful message to doctors who practice adult medicine 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. This is very important because 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 odyssey, enables a management plan that is driven by established natural history data in the literature, and makes accurate genetic counselling for reproductive options possible.
Q2: Middle East Health: What kinds of adult patients should prompt clinicians to think about genomic testing?
Prof. Fowzan Alkuraya: The key trigger is not a specific organ label – kidney, heart, neurology, endocrine – rather it is when the clinical story does not fully fit the usual diagnosis: unusual age, severity, family history, atypical associated features, or unexpected trajectory. In our cohort, a positive family history and consanguinity were associated with higher diagnostic yield, which helps clinicians refine whom to test earlier. Importantly, adult medicine also includes many “common disease labels” that can hide underlying monogenic disorders. Our study highlights that monogenic causes can masquerade as common multifactorial adult diseases; so genomics becomes powerful when clinicians use it to test a well-formed clinical hypothesis.
Q3: Middle East Health: Your study reports diagnostic errors in a large proportion of positive cases. Why is that important?
Prof. Fowzan Alkuraya: We found that 38% of patients with positive reports had a clinical diagnostic error, meaning the prior label did not match the molecular diagnosis. This matters because labels shape downstream decisions: surveillance, medications, referrals, and what the physician expects to happen next. Genomics can correct the label and place the patient on a more accurate and safer clinical pathway.
This is one of the clearest ways genomics supports Precision Medicine in daily practice: it reduces diagnostic uncertainty and prevents long diagnostic journeys, especially when adult presentations of paediatric-onset genetic conditions become atypical over time.
This is a powerful reminder that adult patients, just like their paediatric counterparts, deserve better than a clinical “guess” in an era when clinical genome sequencing is not only affordable but highly effective in revealing the accurate diagnosis.
Q4: Middle East Health: The study found clinical utility in 90% of positive cases. What does that mean in practical terms?
Prof. Fowzan Alkuraya: It means the result was not just academically interesting; it helped clinicians make better decisions. Using structured clinician feedback (C‑GUIDE), we found ~90% clinical utility among positive cases.
Utility can mean changing surveillance, refining prognosis, guiding treatment and management, improving family counselling, or enabling reproductive planning.
In the paper, clinicians described how a molecular diagnosis can change what they do. For example, early nephrology referral and avoidance of nephrotoxic medications after diagnosing Alport syndrome in a patient initially presenting with hearing loss; or correcting a misdiagnosis of multiple sclerosis to a genetic spastic paraplegia diagnosis; shifting management toward the right mechanism.
Q5: Middle East Health: How often are genetic diagnoses in adults clinically actionable?
Prof. Fowzan Alkuraya: When we systematically assessed actionability using a curated compendium of treatable genetic disorders, we found that 26% of positive reports involved conditions with a treatment/management recommendation.
The key message is that delayed diagnosis in adults is not just a documentation issue, it can be a missed chance for effective intervention. Adult genomics is therefore not only about answering “what is it?” but often “what should we do differently now?”.
Q6: Middle East Health: Saudi Arabia and the Gulf have distinct population structures. How does that affect interpretation?
Prof. Fowzan Alkuraya: This is where local data becomes essential. In populations with higher rates of consanguinity and founder variants, local reference data can materially improve variant interpretation. In our cohort, 61% of diagnosed phenotypes were recessive, and 94.6% of those were homozygous; a pattern consistent with higher consanguinity
Founder variants play a major role in this landscape. Founder variants accounted for a very large proportion of recessive diagnoses and the same population structure enables identification of extremely rare recessive disorders and occasionally novel gene–disease leads.
Without an appropriate reference database, genome sequencing generates a large number of variants that are difficult to interpret. This is why local population data is essential; it enhances interpretation, reduces uncertainty, and ensures findings are meaningful for the patient in front of the clinician.
Q7: Middle East Health: Nearly half of the variants in the study were absent from gnomAD. Why is that important?
Prof. Fowzan Alkuraya: In our study,45.5% of encountered variants were absent from gnomAD, which shows that global databases are still not truly global.
If clinicians and laboratories rely only on public resources that underrepresent Middle Eastern populations, variant interpretation becomes less accurate and more uncertain. That is a clinical equity issue; “precision” in Precision Medicine cannot be achieved if the data it depends on excludes large parts of the world’s population. Generating local evidence improves interpretation for our patients and contributes knowledge that improves healthcare globally.
Q8: Middle East Health: Where does Lifera Omics fit into this clinical picture?
Prof. Fowzan Alkuraya: The goal is not sequencing for its own sake; it is to deliver clinically actionable insight in a way physicians can use. That requires integration of wet‑lab sequencing, bioinformatics interpretation, secure data infrastructure, and clinically oriented reporting.
Lifera Omics is the national Precision Medicine enabler for Saudi Arabia. In practical terms, it means building systems so that genomic medicine is not an exceptional service limited to a few centres, but a reliable clinical tool that supports everyday decision-making, especially when conventional diagnostics are inconclusive.
Q9: Middle East Health: Your study included comparison between exome and genome sequencing. What should clinicians take from that?
Prof. Fowzan Alkuraya: We were careful to note in our study that this was not a head-to-head comparison of exomes and genomes. The reason is that the overwhelming majority of genomes were ordered as a second-tier test after negative exome results. Ideally, you want to compare those who had exomes as a first-tier test with those who had genomes as a first-tier test. Nonetheless, we think there is value in the way we did the comparison in two ways. First, we show that there is indeed a benefit to doing genome sequencing after a negative exome result. Second, and more importantly, the majority of variants identified in genome sequencing could have been picked up by exome sequencing, which indicates that interpretation rather than detection remains the most significant challenge in this era of genomic sequencing. Clinicians benefit most when testing is coupled with strong phenotyping, local reference data, and a reporting system that answers the clinical question clearly.
Q10: Middle East Health: You often speak about multi-omics. How should clinicians think about that beyond genomics?
Prof. Fowzan Alkuraya: Genomics is foundational, but it is not the whole story. 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.
For clinicians, the point is not “more tests”. The point is better precision in diagnosis, prognosis, and treatment selection – but adoption must remain evidence-led and clinically responsible.
Q11: Middle East Health: What role will AI play in making this usable for clinicians?
Prof. Fowzan Alkuraya: AI will be essential as data scales, particularly as we move toward multi‑omics and longitudinal clinical integration. AI can support pattern recognition and help prioritize signals, generate hypotheses and support interpretation, but it must operate within strong governance frameworks and high-quality clinical data.
The clinician remains central; AI should support clinical reasoning, not replace it. The most powerful use of AI is when it amplifies a good clinical question and returns an interpretable answer that can guide action.
Q12: Middle East Health: What would you say to clinicians who worry genomics may complicate practice?
Prof. Fowzan Alkuraya: I understand that concern. Clinicians are already managing complex patients, limited time and increasing amounts of information. The goal is not to burden them with raw genomic data; it is to provide clearer answers: what was found, how confident are we, what does it mean clinically, and what should be considered next. This is why laboratory excellence matters.
Our study shows that when used appropriately, genomics improves diagnostic precision, corrects errors, and often has actionable implications. That is simplifying care, not complicating it. Indeed, the feedback we received from our interviews of the ordering physicians has been nothing short of extreme enthusiasm for this new way of addressing the diagnostic odyssey.
Q13: Middle East Health: Does this approach change the daily clinical workflow, what should clinicians do differently tomorrow?
Prof. Fowzan Alkuraya: The practical change is earlier integration of genomics into the differential diagnosis for selected patients – particularly those with atypical disease presentations, strong family history, early-onset features that persisted into adulthood, or multi-system involvement.
In short: clinicians 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.
Q14: Middle East Health: What is your closing message to physicians in the region?
Prof. Fowzan Alkuraya: My message is that genomics is no longer a distant research tool. In the right clinical context, it already improves adult care – diagnostic accuracy, management decisions, and family counselling. Our cohort demonstrates high yield, high utility, and real opportunities for earlier intervention. And this is just the beginning! Just imagine how all these benefits will be amplified as we adopt layers of omics beyond genomics.
To move from precision medicine as a concept to everyday practice, we need clinicians, laboratories, researchers, data experts, and governance structures working together around the same clinical question: improving patient care.
Reference:
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). https://doi.org/10.1186/s13073-025-01529-2
