Prion disease in United States: help and pathways

The surveillance centre

The National Prion Disease Pathology Surveillance Center, in the Department of Pathology at Case Western Reserve University in Cleveland, handles centralised testing for prion disease. That includes spinal fluid RT-QuIC for diagnosis during life, targeted PRNP sequencing for both patients and people at risk, and post-mortem examination. It also acts as a biobank for research and can receive donated tissue.

Its autopsy coordination program arranges a brain-only autopsy for suspected prion disease and states the service is free of charge for United States cases, covering the testing and round-trip transport between the funeral home and the autopsy site. It does not pay funeral or embalming charges. The centre aims to complete the procedure within one to three days of death, states that there is no scientific or medical reason to prevent embalming or a full viewing, and releases final reports at about three months. Results go to the physicians named on the consent form rather than to the family, so record that clinician’s name.

Contacts are 216-368-0587 on weekdays, 216-647-8148 out of hours, and cjdsurveillance@uhhospitals.org.

Published best-practice guidance notes that at the time it was written, predictive PRNP testing at the centre was free of charge for people with a first-degree relative confirmed to have prion disease, with results returned to an ordering healthcare provider.

The family organisation

The CJD Foundation runs a toll-free helpline on 1-800-659-1991 and at help@cjdfoundation.org, and will send a caregiving guide on request. Its caregiver pages offer a worksheet to take to appointments, a physiotherapy handout on falls, home changes and safe transfers, and a speech and language handout on communication, swallowing and memory. For respite it points to hospice providers, privately hired aides, and family or friends who can take shifts.

The Foundation also offers to speak directly with clinicians and counsellors who want more information about CJD, which is useful when a local team has not seen a case before.

Genetic counselling

The Foundation advises looking for a counsellor trained in adult-onset conditions, specifically in the Huntington protocol, and points to the National Society of Genetic Counselors directory at findageneticcounselor.nsgc.org.

It also advises arranging life or long-term care insurance before testing. Published guidance adds that a pre-test discussion should cover the Genetic Information Nondiscrimination Act, life and long-term care insurance, and reproductive options, and that results can be held in reserve or DNA banked rather than opened immediately.

Counselling comes before any decision, and not testing is a valid choice. Counselling first and the right not to know cover this.

One technical point to raise with whoever orders a test: one class of PRNP change, octapeptide repeat insertions, is not reliably detected by standard next generation sequencing unless the specific test is requested.