Genetic professionals play a role in the comprehensive management of cystic fibrosis. They include medical geneticists, nurses, and genetic counselors. Their role is to identify families at risk of various genetic disorders by gathering and analyzing individuals’ health information, family history, and inheritance patterns to ascertain the likelihood of a genetic disease recurring (Middleton et al., 2022). They also provide information on genetic testing and other diagnostic tests applicable to ascertaining genetic disorders in individuals and families. Nurses can also play a role in providing care to patients with various genetic disorders.
Referral resources for persons with genetic disorders include medical geneticists, genetic counselors, and genetic support groups. Medical geneticists and genetic counselors are valuable in providing genetic information, including various genetic disorders, risk probability, and education to affected individuals. Genetic support groups such as the Genetic Alliance are important sources of psychosocial support for patients with various genetic disorders. The patient, in this case, can benefit from these resources.
Angural, A., Spolia, A., Mahajan, A., Verma, V., Sharma, A., Kumar, P., Dhar, M. K., Pandita, K. K., Rai, E., & Sharma, S. (2020). Review: Understanding rare genetic diseases in low-resource regions like Jammu and Kashmir – India. Frontiers in Genetics, 11. https://doi.org/10.3389/fgene.2020.00415
Farrell, P. M., Rock, M. J., & Baker, M. W. (2020). The impact of the CFTR gene discovery on cystic fibrosis diagnosis, counseling, and preventive therapy. Genes, 11(4), 401. https://doi.org/10.3390/genes11040401
Francis, N., Yavuz, S., & Elnazir, B. (2023). Beyond the local basic panel: Full CFTR gene analysis identifies novel CF mutation missed on standard testing in an Arabic child. Cureus. https://doi.org/10.7759/cureus.33337
Middleton, A., Taverner, N., Houghton, C., Smithson, S., Balasubramanian, M., & Elmslie, F. (2022). Scope of professional roles for genetic counselors and clinical geneticists in the United Kingdom. European Journal of Human Genetics, 31(1), 9–12. https://doi.org/10.1038/s41431-022-01214-7