Clinical Performance Evaluation of Type 1 Diabetes (T1D) SNP Array

• Research type

  Research Study

• Full title

  Clinical Performance Evaluation of Type 1 Diabetes (T1D) SNP Array (EV4489A/B)

• IRAS ID

  357706

• Contact name

  Kristopher Pentland

• Contact email

  Kristopher.Pentland@randox.com

• Sponsor organisation

  Randox Laboratories Limited

• Duration of Study in the UK

  0 years, 0 months, 10 days

• Research summary

  Research Summary: There are several forms of diabetes including Type 1 Diabetes and Type 2 Diabetes. It is not always easy for a doctor to be certain what type of diabetes a person has. It is important that the correct type is confirmed as the patient treatment and care pathways are very different. This observational study, sponsored by Randox Laboratories Ltd, aims to evaluate the performance of a test which provides a genetic risk profile for Type 1 Diabetes. The genetic component of Type 1 Diabetes is well known and remains unchanged throughout life offering a means to identify individuals who are at a higher genetic risk for this condition helping with disease identification before symptoms arise and improving patient care, treatment and potential outcomes. The study will involve testing leftover pre-characterised clinical samples originating from NIHR Exeter Clinical Research Facility including non-diabetics, individuals with early onset Type 1 Diabetes, adult-onset Type 1 Diabetes or Type 2 Diabetes. All samples have fully informed consent for research use. The study will be conducted within Randox Clinical Laboratory Services (RCLS), a UKAS ISO 15189 accredited laboratory and will be completed within 10 working days. Study outcomes will show discrimination between Type Diabetes and non-diabetes or Type 2 Diabetes as per the intended use of the test.

  Summary of Results:
  Results:
  A genetic profile with a risk score was generated for 498 samples out of the 500 tested. Two failures were due to sample issues. The test was shown to provide the same result as a reference method. All study outcomes were met with the test showing good test performance especially in differentiating Type 1 Diabetes from other forms of diabetes such as Type 2 Diabetes. The test therefore met its intended use and labelling claims.

  Adverse Events:
  No subject enrolment was carried out as the clinical study was observational in design and used leftover pre-characterised clinical samples. As such study design posed no additional risks to test subjects or potential for adverse event(s).

  Benefit of Study:
  This Type 1 Diabetes (T1D) SNP Array (EV4489A/B) test offers the clinician an additional tool to aid in the diagnosis of this life-threatening condition when used in combination with clinical factors such as age, BMI, and T1D autoantibody status. By identifying individuals who are at a higher genetic risk to Type 1 Diabetes can lead to disease prediction prior to symptom onset which would have overall benefit for the patient by improving overall care, treatment plans and patient outcomes such as the introduction of preventive therapies of lifestyle modification and drug intervention to reduce disease progression. The misdiagnosis of Type 2 Diabetes as Type 1 Diabetes may result in unnecessary initial insulin treatment, leading to higher drug/monitoring costs and more side effects (weight gain, low blood sugar). Conversely, misdiagnosis of Type 1 Diabetes as Type 2 Diabetes leads to poor glycaemic control, frequent health care contact for increased treatment, inappropriate insulin regimens and the risk of life-threatening ketoacidosis. This test can readily be used to aid in the correct classification of diabetes thereby improving overall patient health and reduction in healthcare burden.

  Patient and Public Involvement and Engagement:
  As clinical samples were obtained from previous research studies and overall, the Clinical Performance Study was observational, it was deemed that PPIE was not required. PPIE from the previous research studies which were the source of the clinical samples is available at https://gbr01.safelinks.protection.outlook.com/?url=https%3A%2F%2Ftrack.pstmrk.it%2F3ts%2Fexetercrfnihr.org%252Fpublic-and-patients%252Fpatient-and-public-involvement-ppi%252F%2523%2FNBTI%2FKPHFAQ%2FAQ%2Fe3902329-0ed8-456a-bb74-600a4b1b21e5%2F1%2FwwvASjpZgI%23&data=05%7C02%7Csouthbirmingham.rec%40hra.nhs.uk%7Ce4f6eab906bb4d3a154908dec6d4cebe%7C8e1f0acad87d4f20939e36243d574267%7C0%7C0%7C639166814464122832%7CUnknown%7CTWFpbGZsb3d8eyJFbXB0eU1hcGkiOnRydWUsIlYiOiIwLjAuMDAwMCIsIlAiOiJXaW4zMiIsIkFOIjoiTWFpbCIsIldUIjoyfQ%3D%3D%7C0%7C%7C%7C&sdata=LsuWHRj6Qt69juKyuCbH2hb4OWMbt%2FDIxRuo2h9p3Fk%3D&reserved=0

  Further Research:
  One limitation of the study however was the low numbers of other ethnic groups assessed. 98% of the study equated to ‘White British, White Irish, Other white’ with only 2% other ethnicities. It is well documented within the test instructions for use that the genetic risk score has been developed and validated in European ancestry populations and caution must be applied to interpreting results in non-European populations and is an ongoing area of research. A further study would be beneficial within other ancestries besides European.

  Further Details:
  The study is registered on ISRCTN registry (UK Clinical Study Registry) where further details can be found

• REC name

  West Midlands - South Birmingham Research Ethics Committee

• REC reference

  25/WM/0091

• Date of REC Opinion

  27 May 2025

• REC opinion

  Favourable Opinion