Metabolic Genetic Testing Market Outlook: Market Trends

Growth Drivers

• Advances in genetic testing techniques: This is the primary fueling factor for this landscape since the continued advancements in terms of next-generation sequencing and whole-exome sequencing are fostering an extremely progressive ecosystem for pioneers in this field. For instance, in June 2025, GoPath Diagnostics announced the launch of DiabetesNow, which is a genetic test panel designed to improve the diagnosis and classification of diabetes. The firm further stated that the panel analyzes 16 genes linked to monogenic diabetes, along with polygenic risk scores for type 1 and type 2 diabetes across different ancestries.
• Government and healthcare programs: The support from government initiatives and programs provides financial support for patients diagnosed with metabolic disorders, thereby driving demand for metabolic genetic testing. Besides public health policies that promote newborn screening and early diagnosis, further stimulate market growth. WHO notified that it updated its 2022 postnatal care guidelines to include new recommendations for universal newborn screening as part of ensuring optimal health and well-being, hence improving long-term outcomes and setting a credible standard for newborn care.
• Rising demand for personalized medicine: The shift towards personalized medicine is efficiently driving the growth of the market. As targeted therapies continue to develop, the demand for accurate genetic diagnostics also increases. In May 2022, Invitae reported that it expanded its Pharmacogenomics Panel, covering 38 genes and a clinical decision support tool, which advances personalized medicine by helping drug prescriptions based on genetic profiles.  This is readily supported by growing regulatory backing and evidence of reduced hospitalizations, thereby driving wider adoption of pharmacogenomic testing.

Global Statistics and Genetic Insights in Diabetes Mellitus

Source: NIH

Key Strategic Developments in Metabolic Genetic Testing (2024-2025)

Challenges

• Absence of standardized testing protocols: This is negatively impacting the growth of the market. There is no universally accepted framework for genetic testing, especially in interpreting variants of uncertain significance. Therefore, this variability in test panels, sequencing depth, and reports across laboratories often leads to inconsistent results, making it challenging for clinicians to analyze the outcomes, thereby limiting adoption in this sector.
• Limited clinical awareness & expertise: Most of the healthcare professionals in rural or underprivileged sectors are facing the challenge of a lack of adequate training in genomics. Also, a few are not so familiar with the implications of metabolic genetic testing, which leads to underutilization of available tests and delays in patient referrals. Further, the shortage of genetic counselors and clinical geneticists exacerbates this gap, limiting the integration of testing into routine patient care.