Molecular Testing for Cystic Fibrosis Carrier Status Practice Guidelines: Recommendations of the National Society of Genetic Counselors

Abstract

PurposeTo provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated information about the natural history, diagnosis, and treatment of CF and related conditions. 2) Supplement genetic counselors’ knowledge and understanding of the available carrier screening and diagnostic testing options. 3) Describe the current state of genotype/phenotype correlations for CFTR mutations and an approach to interpreting both novel and previously described variants. 4) Provide a framework for genetic counselors to assist clients’ decision‐making regarding CF carrier testing, prenatal diagnosis, and pregnancy management.Disclaimer The practice guidelines of the National Society of Genetic Counselors (NSGC) are developed by members of the NSGC to assist genetic counselors and other health care providers in making decisions about appropriate management of genetic concerns; including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice‐based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the NSGC practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge.In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population.Practice guidelines are published by NSGC for educational and informational purposes only, and NSGC does not “approve” or “endorse” any specific methods, practices, or sources of information.

Introducing the next generation sequencing in genomic amnio and villuos sampling. The so called �Next Generation Prenatal Diagnosis� (NGPD)

“…High risk populations (family, maternal age, the presence of genetic markers) can be advised to test one or more specific problems or advised to use all the methodologies currently available, above all if the objective of these interventions is to guarantee the two above-mentioned principles. In particular, regarding the quality of life of the new-born child, some investigations, such as the search for the mutations responsible for congenital deafness or for cystic fibrosis, can make it possible to set up interventions that can improve the outcome of the new-born child (32)(33)(34). In low risk populations, there is an increasing number of couples that, for various reasons, request precise details regarding the health of the foetus.…”

Pre- and post-test genetic counseling for chromosomal and Mendelian disorders

“…Currently, practice guidelines for professional societies support offering carrier screening for some conditions for individuals known to be at increased risk for specific genetic conditions based on ethnic background or heritage and for certain personal and family history features. 12,14–16, 21, 23–25 For example, there are specific guidelines for offering carrier screening in the Ashkenazi Jewish and Mediterranean populations. 12,14 A family history of intellectual disability and autism should prompt consideration of carrier screening for Fragile X syndrome.…”

Public awareness on cystic fibrosis: results from a national pragmatic survey

“…Research has provided effective tools for disease prevention and treatment [1]. Defective gene and its protein product were discovered in 1989 [2][3][4] and screening systems are available for carrier identification [5] Moreover, new-borns screening for CF facilitates early diagnosis and genetic counselling. Thanks to more effective drugs availability [6,7], life expectancy has significantly grown in the last decades [8], with more than 45% of the CF patients aged >18 years and with a satisfying quality of life [9].…”

“…4 Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy. 5 Both authors contributed equally.…”