Genetic Counselling LITERATURE REVIEW

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II.5. Genetic Counselling

The implication of a genetic diagnosis on an individual will also affect the entire family. Thus, genetic counselling is crucial in genetic condition. Genetic counseling is described as “... the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease,”. National Society of Genetic Counselors’ Definition Task Force et al. 2006 . In this process, genetic counselors play pivotal roles in risk assessment and patient counseling, consultation and case management, and education for patients and providers O’Daniel, 2009. Risk assessment is important for prospective parents, especially couples who already have a child with mental retardation. Parents are keen to know the risk of their next child being affected. This information may help them make informed decisions about having the next child. WHO, 2010. Despite the importance and advantages of genetic counselling, many children who should be receiving genetic counseling and testing often do not receive all of the services they require Wang and Watts, 2007. Data from American Academy of Paediatric have indicated that families of children with mental retardation perceive significantly higher need for genetic counselling compared to other children with special need. Data from 2005–2006 National Survey of Children With Special Health Care Needs also showed that access to genetic counselling services is affected by several barriers: the lack of a medical home, the lack of insurance, low family income and low education attainment McGrath et al., 2009. There are also several factors influencing transmission of genetic counselling information inside family members. First-degree family members are more frequently informed compared to second- or third-degree family member Claes et al., 2003. Gender is also play role in this process, as women are more likely to communicate d’Agincourt-Canning, 2001. Intrafamily mode of communication and emotional bond, mode of inheritance of the genetic condition, positive family history and the perception ofthe ability to act on the genetic information are also affecting the transmission of information Forrest et al., 2008. 25

II.6. Theoritical Framework