Cystic fibrosis (CF) is a genetic disease caused by mutations in the CFTRgene resulting in the buildup of thick, sticky mucus in various organs, such as the lungs, pancreas, intestines, and reproductive organs. The accumulation of this mucus often leads to inflammation and scarring (fibrosis) in the affected organs.
Symptoms of the disease vary depending on the affected organ, but most symptoms start showing up soon after birth. There is currently no known cure for CF but there are treatments that can alleviate symptoms. Therapies addressing the underlying cause of the disease have also been developed in recent years.
CF is inherited in an autosomal recessive manner. This means that a person only develops the disease if they inherit two faulty copies of the CFTR gene. If a person has one faulty copy of the gene, they are called a CF carrier and do not show any symptoms, but they may pass on the disease risk to their children.
Genetic counseling can inform patients about the disease and assess the risk of future generations inheriting CF.
What is genetic counseling?
A genetic counselor analyzes the nature of a patient’s genetic disease and provides information about its progression and management, available support groups, and the risks of passing it to future generations.
Why is genetic counseling important for CF?
Because CF symptoms vary and affect different organs, it is difficult to devise diagnostic, therapeutic, and disease management strategies for individual patients.
A genetic counselor will be able to recommend the appropriate genetic or prenatal tests to screen for the disease during pregnancy or right after childbirth if there is a known family history of the disease. The counselor can assess the implications of a newborn’s CF diagnosis for parents, siblings, and future offspring. Therefore, genetic counseling can help the affected individuals, and their immediate and extended families to manage their own lifestyle and reproductive options.
CF genetic counseling generally covers:
How the symptoms of the disease manifest in an affected individual and methods to identify them
The genetic and inheritance pattern of the disease, and the nature of the symptoms
The importance of undergoing genetic tests for a proper diagnosis
The examination of genetic test results and establishing the likelihood of the individual being affected by the disease or being a carrier
The implications of both positive and negative genetic test results on the individual and their present and future offspring, as well as others in the family.
Challenges in genetic counseling for CF
More than 1,000 mutations causing CF in the CFTR gene have been identified. Therefore, the challenges for genetic counselors in properly assessing the nature and severity of CF symptoms are multifold. A genetic counselor needs to consider medical and psychosocial aspects while determining the best course of counseling for the patient. The situation becomes even more complicated when multiple CF variants are identified during genetic testing.
CF can also affect the reproductive system and lead to infertility in male and female patients. Therefore, it is important that the counselor is familiar with fertility issues and assisted reproductive technologies to refer affected individuals to appropriate specialists as needed.