Recurring concern

Unreliable detection and reporting of clinically significant genetic variants

First to latest report 14 Mar 2018 — 17 Oct 2023

Reports that mention this concern
2
Times this concern has been raised
3
Stated actions linked to this concern
0

What this concern includes

Includes failures in genetic testing, molecular autopsy and associated laboratory reporting processes that prevent reliable detection, interpretation or communication of clinically significant pathogenic or familial genetic variants relevant to patient care or prevention of future deaths.

What is not included
  • Excludes generic laboratory, diagnostic or pathology failures where genetic variant detection or reporting is not the material unsafe condition.
  • Excludes failures in genetic counselling or cascade communication after a variant has been accurately detected and reported.
  • Excludes research, screening or genetic-information issues unrelated to identifying clinically significant variants for diagnosis, family risk assessment or prevention of future deaths.
  • Excludes the broader coronial autopsy governance concern where the assertion does not concern genetic variant detection or reporting.

Reports and published responses 2 reports

See individual reports that have raised this concern, and the actions taken in response

  1. Newcastle upon Tyne and North Tyneside

    AI-generated summary

    Tyler Jay Ryan · Prevention of Future Deaths report

    This summary was generated using AI from the published report. Please read the original report for the complete account.

    Report summary

    Tyler Jay Ryan, aged 11, was found collapsed in his bedroom on 12 February 2021 and died after resuscitation attempts. Genetic testing identified two RYR2 variants associated with CPVT, following earlier differing pathological opinions. The report raised concerns about delays in paediatric pathology reporting and the delayed identification of families who may need genetic testing, as well as the need for wider use of molecular autopsy and revision of the SUDIC Protocol.

    Read the report on judiciary.uk

    Source evidence

    How this individual concern was interpreted

    PFD Monitor created a concise, searchable interpretation from the report wording shown below.

    PFD Monitor interpretation

    Limited use of molecular autopsy after sudden death in childhood

    Wider context from the report

    “3. ████████ and ████████ gave evidence that more widespread use of molecular autopsy would assist in detecting genetic abnormalities in children who have died suddenly, leading to greater opportunities to prevent future deaths within their families and in other families. ”

    Source location

    Tyler Jay Ryan · Prevention of Future Deaths report
    Page 3 · concerns

    Open source report

    Source evidence

    How this individual concern was interpreted

    PFD Monitor created a concise, searchable interpretation from the report wording shown below.

    PFD Monitor interpretation

    Limited use of molecular autopsy to detect familial genetic variants

    Wider context from the report

    “4. ████████, Consultant Clinical Geneticist gave evidence that Tyler is, to date, the only human in history to have been found to have these two RYR2 variants which is significant to his family and to the wider scientific community. Greater use of molecular autopsy would save lives within families and in other families. The detection of these variants is directly relevant to others and the prevention of future deaths. ”

    Source location

    Tyler Jay Ryan · Prevention of Future Deaths report
    Page 3 · concerns

    Open source report

    Source evidence

    How this respondent position was interpreted

    PFD Monitor created a concise, searchable interpretation from the published response wording shown below.

    PFD Monitor interpretation

    RCPath is the appropriate organisation to comment on concerns about molecular autopsy.

    Verbatim wording from the response

    “RCPath and they would be the appropriate organisation to provide comment on your concerns touching on molecular autopsy.”

    Source location

    Response from NHS England
    Page 2 · response
    Published 30 October 2023

    Open published response

  2. Inner North London

    AI-generated summary

    Freddie Oliver DOBINSON-EVANS · Prevention of Future Deaths report

    This summary was generated using AI from the published report. Please read the original report for the complete account.

    Report summary

    Freddie Dobinson-Evans had undiagnosed Dravet syndrome and died from causes recorded as post-cardiac arrest syndrome and Dravet syndrome. A genetic test report was communicated to his father as “absolutely normal”, although Freddie had a pathogenic SCN1A gene mutation; the report identified the potential for significant consequences for another child.

    Read the report on judiciary.uk

    Source evidence

    How this individual concern was interpreted

    PFD Monitor created a concise, searchable interpretation from the report wording shown below.

    PFD Monitor interpretation

    Failure of genetic testing to detect a pathogenic gene mutation

    Wider context from the report

    “Following a testing request made for Freddie on 20 February 2017, a report was issued from the laboratory at Great Ormond Street Hospital on 7 June 2017. It was headlined: No clearly pathogenic variant detected. Diagnosis not confirmed. ████████ spoke to Freddie’s father the following day and told him that Freddie’s genetic test results were “absolutely normal”. In fact, Freddie did have a pathogenic gene mutation in the SCN1A gene and died as a result of Dravet Syndrome. By the time the report was issued, Freddie had already sadly died and so of course the misdiagnosis had no consequences for him, but such a situation could have significant consequences for another child. ”

    Source location

    Freddie Oliver DOBINSON-EVANS · Prevention of Future Deaths report
    Page 2 · concerns

    Open source report

Actions and positions describe what organisations say in published responses. Implementation is not independently verified.

Back to top

Data last updated 7 September 2026