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Hi Simon, Thank you so much for your email. I am planning a one-day seminar on the topic of biobanking in October (likely dates 5th or 6th or 12th ) in Dublin and I would like to invite some talks from scientists/medics from diagnostic labs so that we are not overlooked in this new era. I have a similar experience to yourself, where we have done specialist diagnostic testing with poor yield and are then asked to refer for exome sequencing or to a research lab to get a definitive diagnosis. I have often felt that we should retain samples on interesting patients to look back when we have better diagnostic tools, phaeo, rarer metabolic diseases, etc. I will follow up with you re this seminar. Best, Maria From: Simon Olpin [mailto:[log in to unmask]] Sent: 28 July 2017 13:34 To: [log in to unmask]; Dr Maria Fitzgibbon Cc: Camilla Scott; Marta Cohen Subject: Re: Biobanking Dear Maria, We in the Department of Clinical Chemistry at Sheffield Children's Hospital have for around 30 years offered a diagnostic service for inherited metabolic disease & in conjunction with this, much of the confirmatory diagnostic work has been done in fibroblasts. Along with our colleagues in Histopathology (Dr Marta Cohen is our current HoD for Histopathology) we have stored consented cryopreserved fibroblast cell lines from living patients undergoing investigations for possible metabolic disease and post mortem fibroblasts where investigation for possible metabolic disease was indicated. We have contacted the coroners involved with regards to our storage arrangements in post mortem cases. We currently have stored approximately 8,000 cell lines in total. We have corresponded with the HTA on numerous occasions over the years & most recently this year, requesting guidance on the long term storage/disposal of post mortem cryopreserved fibroblasts. The HTA has clearly indicated to us that, somewhat surprisingly, post mortem fibroblasts are not covered by HTA as they are "derived outside the human body". We have devised our own policy, having contacted our coroners, as advised by the HTA. Increasingly, as you indicate, primarily because of the advances in second generation sequencing, we are being asked to recover cryopreserved fibroblasts and send these to various centres for further consented investigation. New diagnoses are being achieved. We would be interested to hear from you further as it seems that there are relatively few diagnostic centres involved in this service. Kind regards, Simon Dr S Olpin BSc PGCE MSc PhD CSci EurClinChem FRCPath Consultant Clinical Scientist in Inherited Metabolic Disease Sheffield Children's Hospital Sheffield S10 2TH 0114 2717267 >>> Dr Maria Fitzgibbon <[log in to unmask]<mailto:[log in to unmask]>> 28/07/2017 12:51 >>> Dear colleagues, With many changes in technology in research and diagnostics there is a large interest in biobanking patients samples. I think there is potential for diagnostic laboratories to become involved in this as we are often the ones identifying the diagnosis in many interesting diseases. We are increasingly involving research labs in the diagnostic pathway in rare and complex diseases and it is optimal to have these samples stored within the diagnostic labs. We have a National SADS Biobank, under my governance at the Mater University Hospital in Dublin, and when the family consent we submit the samples for genetic testing, which in many cases results in the true cause of death being identified in the proband’s post-mortem report. From an ethical point of view, this was approved by the Chief Coroner. We have included this biobank under our laboratory accreditation, although this is a “grey” area. Is anyone involved in biobanking allied to their diagnostic service? I look forward to views on this. Best, Maria Prof Maria Fitzgibbon, Consultant Clinical Biochemist/UCD Clinical Professor, Department of Clinical Biochemistry/Diagnostic Endocrinology, Mater University and Mater Private Hospitals/School of Medicine, University College Dublin, Eccles St, Dublin 7. 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