What does it mean?

Diagnostic yield refers to the proportion of individuals who undergo a particular diagnostic test or procedure and receive a definitive or meaningful diagnosis as a result.

It is a measure of the effectiveness or success rate of a diagnostic evaluation in identifying the underlying cause of patient's symptoms or condition.

The diagnostic yield can vary depending on various factors, including the accuracy and sensitivity of the diagnostic test, the prevalence and complexity of the condition being diagnosed, and the characteristics of the patient population being tested.

A higher diagnostic yield indicates a more effective diagnostic test in providing useful diagnostic information.

How is it calculated?


Accurate Diagnosis

Diagnostic yield measures the effectiveness of genetic testing in providing definitive or meaningful diagnoses. It helps determine the percentage of individuals who can receive accurate and actionable information about their genetic makeup. A high diagnostic yield indicates that the testing is successful in identifying the underlying genetic causes of conditions, leading to accurate diagnoses and informed medical decisions.

Treatment Planning and Personalized Medicine

Genetic diagnoses play a vital role in guiding treatment decisions and developing personalized medicine approaches. A higher diagnostic yield increases the chances of identifying specific genetic variations or mutations that can inform targeted therapies, preventive measures, or lifestyle modifications, leading to improved health outcomes for patients.

Patient Satisfaction and Peace of Mind

Genetic testing often plays a vital role in providing answers and reducing uncertainties for patients and their families. A high diagnostic yield instills confidence in the testing process, increasing patient satisfaction and peace of mind. When individuals receive a definitive or meaningful diagnosis, it can alleviate anxiety, aid in understanding the condition, and enable proactive decision-making regarding their health.


Genetic testing involves significant costs and resources, both for the testing process itself and for subsequent medical interventions or management. A high diagnostic yield ensures that these resources are allocated effectively to individuals who are more likely to receive a conclusive diagnosis, reducing unnecessary testing and associated costs.

Risk Assessment and Genetic Counseling

Genetic testing results often have implications not only for the individual tested but also for their family members. A higher diagnostic yield enables accurate risk assessment and genetic counseling, allowing individuals and their families to make informed decisions about family planning, reproductive choices, and potential interventions to prevent or manage inherited conditions.

Advancement of Research and Scientific Knowledge

Diagnostic yield is also crucial for advancing scientific research and development in the field of genetics. The identification of specific genetic causes and associations with diseases and conditions relies on accurate diagnoses. A higher diagnostic yield provides researchers with a larger pool of individuals with confirmed diagnoses, enabling deeper investigations into the genetic basis of diseases, development of new therapies, and refinement of existing treatment protocols.

  • Krantzet al, 2021

    2017-2019 NICUSeq trial

    354 critically ill infants

    1 country (USA)

    2-fold higher diagnostic yield compared to usual care testing WGS was associated with significant increase in focused clinical management.

  • Lee et al, 2021

    2016-2019 study cohort

    214 children

    1 country (Taiwan)

    The overall diagnostic yield was 43.9%.
    Of those diagnosed via WGS, 23.4% experienced a change in medical management.

  • Scocchiaet al, 2019

    2016 via Illumina program, iHope

    60 children

    1 country (Mexico)

    The diagnostic rate of WGS was 68.3% and a change in clinical management was reported in 48.8% of all cases.

  • iHope report 2021

    2016 Illumina program, iHope

    1.000 children

    9 countries (USA, Mexico, Peru,Ghana,Congo)

    40% reported diagnostic findings in patients.
    26% experienced a change of disease management thanks to the new diagnosis.

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