Genetic counselling

Evidence-based neurology checklist on genetic counselling: Definition Genetic counselling is a process that helps the understanding of specific genetic disorders It helps affected individuals to adapt to the disease medically and psychologically It enables appreciation of the family and…

Definition

  • Genetic counselling is a process that helps the understanding of specific genetic disorders
  • It helps affected individuals to adapt to the disease medically and psychologically
  • It enables appreciation of the family and reproductive implications of the disease

Objectives

Requirements

Pre-test information gathering from subject

Pre-test information provision to subject

Post-test process

References

  1. Crook A, Jacobs C, Newton-John T, O'Shea R, McEwen A. Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review. J Neurol 2022; 269:676-692. 
  2. Quintáns B, Prieto MF, Carracedo A, Sobrido MJ. Genetic counselling in neurology: a complex problem that requires regulation. Neurologia 2011; 26:129-136.
  3. Turnpenny PD, Flinter FA. Clinical genetics. Royal College of Physicians 2013:59-65.
  4. Bocchetta M, Mega A, Bernardi L, et al. Genetic counseling and testing for Alzheimer's disease and frontotemporal lobar degeneration: an Italian consensus protocol. J Alzheimers Dis 2016; 51:277-291.
  5. Rantanen E, Hietala M, Kristoffersson U, et al. What is ideal genetic counselling? A survey of current international guidelines. Eur J Hum Genet 2008; 16:445-452.
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