Growing consumer awareness and the increasing availability of genetic tests for many conditions is likely increasing the number of questions your patients are asking about their risk of disease, the risk to their offspring and whether genetic testing is right for them. Genetic counselors can help you address your patients’ needs and incorporate genetics and genomics into your practice.
1. What is cystic fibrosis genetics?
The specialty area of cystic fibrosis genetics encompasses a wide range of clinical presentations associated with the CFTR gene, including:
- Classic cystic fibrosis (CF)
- CFTR-related metabolic syndrome (CRMS)
- Other CFTR-related disorders (i.e. hereditary pancreatitis and some forms of male infertility)
2. Who should I refer to a cystic fibrosis genetic counselor?
Referral to a CF genetic counselor is appropriate for a wide range of indications. Referral for preconception or prenatal genetic counseling regarding CF carrier testing is indicated for couples who are at increased risk based on family history or ethnic background. Genetic counseling in these cases may also include discussion of prenatal testing options for CF. Families of infants with a positive newborn screen for CF are recommended to meet with a genetic counselor as part of the evaluation process. In addition, genetic counseling can be beneficial for any patient with a known or suspected diagnosis of CF, CRMS, or another CFTR-related spectrum disorder, as well as for family members of these individuals. Identification and referral of patients who may be at risk for these conditions can come from a diverse range of specialties; for example, a male patient being evaluated for possible genetic causes of infertility may be referred to a CF genetic counselor.
3. What benefit does a CF genetic counselor provide to my patients (PCP and/or specialist)?
A CF genetic counselor provides the benefit of expertise in the complexities of CFTR-related genetics, and is able to incorporate factors such as mutation class and specific genotype/phenotype correlations into their consultations with patients. Genetic counselors interpret this information in the context of the patient's medical and family history information as well as results of various CF-related screening and diagnostic tests to provide patients with accurate risk assessment. Genetic counselors can facilitate the genetic testing process for patients and their family members. Genetic counselors also provide psychosocial counseling to address individual issues and concerns that arise as part of this process.
CF care teams can utilize and integrate genetic counselors into their comprehensive teams. In addition to providing the services described above, genetic counselors are able to keep up to date on new mutation-specific treatments and trials that are available for CF patients (such as VX-770, VX-809, etc).
All of the US states (and many other countries) have implemented newborn screening for CF, and most states include a DNA testing component as part of their newborn screening algorithm. The implications of a positive newborn screen for CF and the issues surrounding the follow-up evaluation and diagnostic process can be complex, and genetic counselors can work with patients and their families to inform them about the significance of the newborn screen result. In addition, a positive newborn screen for CF often comes as a surprise to parents, who may have little to no prior familiarity with CF. A CF genetic counselor is able to address the emotional and psychosocial issues that arise through this process.
4. What evidence is there to recommend or support genetic counseling in CF genetics?
A number of professional organizations have endorsed the benefit of CF genetic counseling. The Cystic Fibrosis Foundation (CFF) has published several guidelines for the diagnosis and management of CF and CRMS, all of which have endorsed consultation with a genetic counselor as a recommended component of the evaluation and diagnostic work-up of individuals with suspected CF, CFTR-related disorder, or CFMS. (Farrell et al. 2008. J Pediatr. 153(2): S4–S14; Borowitz et al. 2009. J Pediatr. 155:S73-93; Borowitz et al. 2009. J Pediatr. 155:S106-116). The American College of Obstetrics and Gynecology (ACOG) has published specific guidelines regarding carrier screening for CF, which also support the benefit of genetic counseling services in this setting (ACOG Committee Opinion No. 325. 2005. Obstet Gynecol. 106:1465-1468). Research specifically related to the process of CF newborn screening has provided empiric evidence supporting the benefit of genetic counseling for families of infants with a positive newborn screen result for CF, showing that families who receive genetic counseling services demonstrate a better understanding of the implications of their child’s newborn screen result than those who do not (Ciske et al. 2001. Pediatrics. 107:699-705).
5. What do I tell my patient about a referral to CF genetics?
Patients referred to a CF genetic counselor can expect their appointment to include several components. The genetic counselor will obtain a detailed medical and family history, which will include targeted questions that will assist the genetic counselor in providing accurate risk assessment and counseling (i.e. history of CF in the family; individuals with a history of symptoms that may be related to CFTR, including respiratory and/or lung disease, digestive issues, pancreatitis, or infertility; and ethnic background). Part of the appointment will be devoted to providing information about the genetics of CF, CRMS, and/or other CFTR-related disorders, including inheritance pattern, recurrence risks, and additional information related to the specific CFTR mutation identified for the patient or in the patient’s family. For patients interested in genetic testing for CF, the genetic counselor can provide information on the pros and cons of various testing options and will be able to facilitate the genetic testing process.
6. Where can I find a genetic counselor specializing in CF genetics?
Search the NSGC Find a Genetic Counselor Directory. The website for the Cystic Fibrosis Foundation also includes links to CF care teams around the country, many of which include a genetic counselor as part of their practice or have relationships with CF genetic counselors.