Goldman JS, Vallabh SM. Genetic counseling for prion disease, updates and best practices (Genetics in Medicine 2022)

Goldman and Vallabh is a 2022 review in Genetics in Medicine that serves as the main practical guide for genetic counsellors who meet prion disease. It was written by a genetic counsellor and a prion researcher working in the field, and it covers disease risk across PRNP variants, counselling for symptomatic people, at-risk people and families, and the resources and trials available. The CJD Foundation sends counsellors to it as the place to learn about the disease. In the atlas it is the reference behind the PRNP sequencing entry and the nearest thing to counselling guidance, since the professional counselling bodies hold no prion-specific guideline. This entity records guidance content only, from the abstract and the authors' own description; the full text was not read. Information only, not medical advice.

Key facts

  • The paper is a review by Jill S. Goldman (Columbia University Irving Medical Center) and Sonia M. Vallabh (Broad Institute, Massachusetts General Hospital, Prion Alliance), in Genetics in Medicine 24(10):1993-2003, DOI 10.1016/j.gim.2022.06.003, PMID 35819418.
  • It states that about 10-15% of prion disease is caused by dominant gain-of-function variants in PRNP.
  • It notes that rarity and variable presentation make diagnosis hard and can obscure family history, so families may be unprepared for the genetic implications of a diagnosis.
  • It reports that a new prion-detection assay has changed diagnosis in symptomatic people.
  • It describes penetrance, age of onset and disease duration as now characterised across PRNP variants in a global cohort.
  • It argues the genotype-phenotype link is weaker than once assumed, so "genetic prion disease" may serve providers better than the historical labels CJD, FFI and GSS.
  • It says trials of genetically targeted therapies are being planned and that healthy at-risk people may be best placed to benefit, so they need access to counselling and testing.
  • Its stated aim is to give providers the information needed to expand genetic counselling for prion disease.
  • Vallabh describes the content as covering counselling scenarios for symptomatic patients, at-risk people and family questions, plus resources: testing through the National Prion Disease Pathology Surveillance Center, support from the CJD Foundation, PrionRegistry.org, and educational sites from Prion Alliance and cureffi.org.
  • The authors intend to update the paper every few years as the field changes.
  • The CJD Foundation page for genetic counsellors names the paper and refers families to its helpline for finding a counsellor.

Timeline

  1. 2022Published online 12 July 2022.
  2. 2022Prion Alliance post introducing the guidance, 28 July 2022.
  3. 2022Printed in Genetics in Medicine volume 24 issue 10, pages 1993-2003.

People

Last checked 1 November 2026

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