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. 2022 Nov 22;12(12):1941. doi: 10.3390/jpm12121941

Table 1.

The process of genetic counselling and testing for HD, adapted from [21]. Abbreviations: CAG—cytosine, adenine, guanine.

The Process of Genetic Counselling and Testing for HD
Initial session
  • Providing details of family history to the doctor or genetic counsellor at the session, who then attempts to confirm the diagnosis history

  • A doctor or genetic counsellor provides information about Huntington’s disease, the genetic test process and possible results

  • Discussion on reasons for requesting a test at this stage and their approach to the possible outcomes. There will also be a chance to discuss, if wanted, the reproductive options available if the person wants to avoid the possibility of passing the disease on to the next generation

  • Allowing identifying someone who will support them through the process

  • Encourages them to consider the impact of any result on life, family or friends. This can be particularly important concerning family members who may not wish to be tested, but the test could also reveal their status

  • Encouraging to consider financial implications and other issues such as life insurance and employment

Reflection period
  • The initial session is followed by a summary letter and a reflection period

  • If the person wants to continue with the process, a second session is arranged

Second/third
session
  • A review of the information discussed at the first session is undertaken.

  • The doctor/genetic counsellor, by genetic testing guidelines, may consider a neurological and psychologicaö examination to evaluate the person. However, it is not a requirement for participation in predictive testing.

  • Discussion about preparing for genetic tests and results

Genetic test
  • The date is arranged for a blood sample to be taken

  • The results will not be provided on that day

The results
  • At a follow-up appointment (usually a month after), there will be a face-to-face discussion concerning the test results.

Follow-up
sessions
  • Relevant follow-up sessions are arranged as required after results are given

Advice and
support
  • Regardless of the result, the person must have access to support and advice available.

  • It is appropriated to referral to local associations for HD, thus ensuring contact with others who are going through the same situation; there are mostly support groups and online communities