Project Name: Quality Improvement Project focusing on review of Inherited Retinal Diseases (IRD) Patients’ electronic health records in Primary Care - Collaborative Working

Project Summary:

Piloting a nationally scalable, technology-driven approach to identifying “hard-to-reach” Inherited Retinal Diseases (IRD) patients in a primary care setting who may be appropriate for genetic testing, to unlock treatment options.

  1. Deploy a case-finding algorithm on primary care Electronic Health Record to identify patients with an IRD diagnosis who have not received testing.  
  2. Review flagged IRD cases and refer for follow up if appropriate 

Follow up with patient, secondary care Ophthalmologist, and General Practitioner (GP) to measure impact including patient agreement to referral, appropriateness of patients referred for testing, and increase in population eligibility for treatment or potential future clinical trials. 

Planned Milestones:

Milestone 1: EHR Access & Processing

Milestone 2: Pilot Experience Survey Data Collection

Milestone 3: Pilot Outcome Report

Expected Benefits:

Anticipated Benefits for Patients:

  • This project aims to support patients to access more information about their IRD diagnosis, this in turn will support patients to make informed decisions about their condition
  • An IRD diagnosis and access to dedicated time with health care professionals to discuss their IRD diagnosis, will mean patients will benefit from improved awareness and clarification of molecular cause of their visual impairment
  • Having an IRD diagnosis has potential for improved future treatment and/or management options for patients entered into further clinical studies
  • Improved potential for eligible patients to access NICE approved medicines

Anticipated Benefits for Modality Partnership:

  • By engaging with this Project Modality Partnership will have the opportunity to offer proactive care of patients with Inherited Retinal Disease
  • The Project offers the chance for Modality Partnership to lead a pilot linked to Rare Disease Action Plan 20223 developed by the Department of Health and Social Care, and England Genetic Testing agenda4; with the potential to publish and share of outcomes with peers. For the avoidance of doubt, nothing in this Agreement shall be understood as an obligation to publish, and any such publication shall depend on both Parties’ agreeing such publication following the assessment of the outcome of this Project.

Anticipated Benefits for Novartis:

  • Working collaboratively on this Project will support improved partnership alignment with Modality Partnership
  • This Project supports Novartis’ vision that no patient should have to wait for an extraordinary life; by engaging in this Project, Novartis has the potential enhance reputation nationally and internationally.
  • The Project has the potential to increase identification of patients eligible for treatment with NICE-approved therapy, including that of Novartis.

Start Date & Duration: Start Date: November 2022 Duration: 8 months

UK | November 2022 | 559123

UK2211176768

Project Name: Quality Improvement Project focusing on review of Inherited Retinal Diseases (IRD) Patients’ electronic health records in Primary Care - Collaborative Working

Organisation(s): Modality Partnership

Completion Date: June 2023

Outcome Summary:

Novartis, Modality Partnership, and Mendelian undertook a quality improvement project to pilot a nationally scalable, technology-driven approach to identifying a potentially overlooked cohort of patients with IRD for whom genetic testing may be appropriate to unlock treatment options.

The project confirmed the presence of a detectable cohort for genetic testing in Primary Care and demonstrated the viability of Electronic Health Record (EHR)-based case finding, with the need for workflow integration and clinical time management as next steps.

Key Project Outcomes Data:

Milestone 1: EHR Access & Processing – achieved 

Milestone 2: Pilot Experience Survey Data Collection – achieved

Milestone 3: Pilot Outcome Report – achieved

Outcomes:

Mendelian technology and tools were used to detect a cohort of patients diagnosed with IRD, but without documented genetic testing or in contact with the Genetics Service to facilitate further review. Modality clinicians undertook a detailed review of the full EHR of identified patients to determine appropriate next steps.   

  • 131 patient records were identified as having a diagnostic code for an IRD in the structured EHR but no evidence of genetic testing or review.
  • On review of the unstructured data, past genetic testing or review was found to be present in the records of 43 patients (33%), making onward referral for testing unnecessary.
  • 34 patients (26%) were ultimately contacted regarding referral for genetic testing, with results pending. Apart from the 43 who had previously undergone testing, patients were deemed ineligible for recontact due to having previously declined testing, testing being considered inappropriate (e.g. due to age or other conditions), or due to having left the practice their data was accessed through.
  • In characterising the untested population, 7 patients had a diagnostic code of Leber Congenital Amaurosis (LCA) in their EHR, with 5 confirmed to have a true diagnosis of LCA. All had evidence of referral to genetics or genetic testing.
  • 124 patients had a diagnostic code of Retinitis Pigmentosa (RP) in their EHR. 96 out of 124 patients with an RP diagnostic code in the EHR were confirmed to have a true diagnosis according to the full EHR. 
  • The RP patients who had undergone genetic testing (38 patients) were found to be a median of 10 years younger at the date of analysis (p=0.01) than those who had not (56 patients), and have been diagnosed at 8 years younger (p=0.02).

Quote from Partner:

Dr. Elango Vijaykumar, Research Lead at Modality Partnership, commented on the collaboration between Novartis, Modality Partnership, and Mendelian, saying:

“This quality improvement project is a ground-breaking effort to pilot a nationally scalable, technology-driven approach to identifying patients with potentially overlooked Inherited Retinal Disease (IRD), for whom genetic testing could unlock new treatment options. The outcomes of this project have been an invaluable learning exercise and represent a significant step forward in improving care and treatment pathways for patients. We are excited about the potential this holds for enhancing patient outcomes on a broader scale.”

Hadley Mahon, Chief Business Officer, Mendelian Inc. commented on the collaboration between Novartis, Modality Partnership, and Mendelian, saying:

“We are thankful for our partners in this initiative, who have helped to demonstrate that technology can improve access to genetic testing and speed up access to treatment. The lessons learned here will help further our shared mission to improve health equity, make the UK a global leader in genomic medicine, and end the diagnostic odyssey for people with rare diseases.”

Conclusion:

The pilot project has established that there is a cohort of patients, with a diagnosed IRD who have not had access to appropriate genetic testing and thus have limited access to treatment and ongoing clinical trials and that primary care health records could be a valuable tool for identifying that cohort. 

Finding these patients a genetic diagnosis could provide better prognoses, inform family planning, connect patients to relevant support networks, and unlock access to treatments and clinical trials. 

To realise these benefits, a clinically-led, but technology-enabled approach is required to enable scale but also ensure considered and personalised contact with patients.

Looking forward, this approach, bolstered with learnings from this pilot, deployed nationally promises to increase access to genetic testing, speed treatment R&D, and improve patient outcomes.

FA-11310123 October 2024