When is a patient a patient?
Diagnosis “validation” is the part of the recruitment process for patient-/caregiver-reported studies where the eligibility of the prospective participant is verified. This usually includes confirmation that the patient does indeed have a diagnosis of the disease of interest, but can also involve the validation of other study inclusion criteria, such as the participant receiving a particular treatment. In circumstances where a patient population is hard to reach – for instance, in real-world rare disease studies – the recruitment and validation process must be carefully planned, so that the recruitment numbers from the small and geographically dispersed patient population are maximized, while maintaining confidence that participants have a genuine diagnosis.
Dr Catherine Bottomley, Chief Scientific Officer, and Sam Llewellyn, Senior Consultant, presented a webinar on diagnosis validation in patient-centered research on Tuesday 10th May 2022 at 15:00 BST.
There are various methodologies that can be used for diagnosis validation, the choice between which is dependent on the design of the study, patient population, intended audience, and recruitment source.
The methodology offering the highest degree of reliability is confirmation of diagnosis from a treating clinician, usually associated with recruitment via clinical sites. The involvement of a clinician can be particularly useful if more detailed information that a patient may not be able to reliably report is also required to determine eligibility
(e.g., disease stage). If confirmation from a treating clinician is required, but clinical site recruitment has not been used, the clinician (or family doctor/general practitioner) can be contacted, with patient consent, to validate the diagnosis. However, this methodology comes with its own challenges and has a varied success rate.
Community recruitment through patient associations or advocacy groups is a popular alternative. In this methodology, the typically knowledgeable patient population who are a part of such communities may provide self-confirmed validation that is more reliable compared with individuals recruited by other means. Key advantages and disadvantages of different sources of diagnosis validation are outlined in the table below.
Advantages and disadvantages of different sources of diagnosis validation
• Confirmation of diagnosis is accurately confirmed by a clinician
• Allows for confirmation of more detailed eligibility criteria that patients may not be able to reliably report (e.g., taking a specific treatment, disease stage, etc.)
• Confirmation of diagnosis is accurately confirmed by a clinician
• Allows for confirmation of more detailed eligibility criteria that patients may not be able to reliably report (e.g., taking a specific treatment, disease stage, etc.)
• Typically requires additional incentive payment and time to cover contacting and acquiring confirmation from a clinician
• Prospective patients may be put off by the requirement to obtain clinician confirmation of diagnosis
• Variable response rate
• Confirmation of diagnosis is accurately confirmed by a clinician
• Allows for confirmation of more detailed eligibility criteria that patients may not be able to reliably report (e.g., taking a specific treatment, disease stage, etc.)
• Typically requires additional incentive payment and time to cover contacting and acquiring confirmation from a clinician
• Prospective patients may be put off by the requirement to obtain clinician confirmation of diagnosis
• Variable response rate
• Confirmation of diagnosis is accurately confirmed by a clinician
• Allows for confirmation of more detailed eligibility criteria that patients may not be able to reliably report (e.g., taking a specific treatment, disease stage, etc.)
• Typically requires additional incentive payment and time to cover contacting and acquiring confirmation from a clinician
• Prospective patients may be put off by the requirement to obtain clinician confirmation of diagnosis
• Variable response rate
• Quick and easy, requiring no external involvement for diagnosis validation
• Patients recruited through advocacy groups are often knowledgeable of their condition and thus more reliable than patients recruited by other means
• Fraudulent patients may enroll to the study
• Patients may not be able to accurately report more detailed eligibility criteria (e.g., taking a specific treatment, disease stage)
• Quick and easy, requiring no external involvement for diagnosis validation
• Patients recruited through advocacy groups are often knowledgeable of their condition and thus more reliable than patients recruited by other means
• Fraudulent patients may enroll to the study
• Patients may not be able to accurately report more detailed eligibility criteria (e.g., taking a specific treatment, disease stage)
For real-world patient-reported studies, where data from medical records are not required, speed and convenience are often favored. As such, self-confirmation of diagnosis is often accepted by stakeholders. Several strategies can be put in place to address known issues with this method of diagnosis validation, for instance:
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Monitoring data on an ongoing basis throughout the study and filtering out any outliers or unusual response patterns;
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Including screening questions as a part of enrollment with the aim that only a true patient with the disease would know how to respond accurately;
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Recruiting via patient associations or patient groups, as it is more unlikely that these patients will not have the disease of interest – especially in rare diseases;
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Requesting that potential participants scan and/or upload a diagnosis letter or medication packaging as part of enrollment.
We have experience in tailoring a wide range of validation strategies to specific study cohorts and research questions. Contact us to hear more about how we can help you!
By Sam Llewellyn & Dr Catherine Bottomley
