The "Critical Element of Genetic Evaluation and Genetic Counseling" was written and approved by genetic professionals and perinatologists within the state of Washington. The document is to act as an aid to medical geneticists, genetic counselors, and perinatologists who practice within our state. This Critical Element of Genetic Evaluation and Genetic Counseling does not define the applicable standard of care, nor is it intended to dictate an exclusive course for the diagnosis, counseling, treatment or management of genetic conditions or birth defects. The authors acknowledge that appropriate clinical practices may vary depending upon a number of factors including, among others, the needs and choices of the individual patient, the resources available, and limitations unique to the particular institution or type of practice.

1. Review patient/family questions; reason for referral; knowledge base; perception of disease status and/or risk; what diagnoses have been considered; perceived notion about causation; assess need for professional interpreter:

2a. Using standard symbols, obtain family history (1st and 2nd degree relatives to consultand, and further removed as appropriate). Note ethnic background, consanguinity, ongoing pregnancies, and other significant family history.

b. Additional directed family history: perinatal loss (meconium ileus), childhood deaths, chronic lung disease, FTT (pancreatic insufficiency), infertility.

c. Obtain relevant medical records on patient, including records of 1).appropriate tests/evaluations: sweat chloride and CFTR DNA mutation analysis 2). records bearing on management and 3). on other family members as needed: CFTR DNA mutation analysis

3. Obtain prenatal and perinatal history of patient, including prenatal exposures, pregnancy complications and prenatal testing, when appropriate.

4. Obtain past medical history (including environmental/occupational exposures) focusing on: disease course, specifically lung and pancreatic involvement, infertility

5. Obtain information on growth and development, including school placement. For adult, also obtain information on education, employment and social functioning.

6. Assess family functioning and use of community resources. Assess personal, social, religious, ethnocultural issues.

7. Assess possible ethical concerns, such as confidentiality, non-paternity, insurability, discrimination, prenatal diagnosis:

8 Perform general physical examination of patient and/or other family members present if indicated, with attention to: growth, clubbing

9. Other issues to consider:

(this may occur in a series of multiple patient visits)

1. Summarize information obtained and discuss with patient/family the (possible) diagnosis and the degree of certainty of the diagnosis based on available information.

2. a). Recommend relevant tests/evaluations on patient and/or on other relatives which may include:

3. Discuss the following issues related to natural history: prognosis, developmental outcome/intellectual functioning, anticipated possible medical complications, including pregnancy related risks for affected women if indicated, and preventive measures: current research and advances in CF therapy; fertility issues.

4. Review inheritance pattern (including penetrance and expressivity): Autosomal Recessive

5. Assess and discuss recurrence risk for future pregnancies, for affected and at risk individuals. Discuss general background risk for birth defects and recommendations for preconceptional and prenatal use of 0.4 mg folate per day. Including any additional risk based on family history/ethnicity/maternal age/maternal disease/maternal exposure/others; discuss recommendations for preconceptional folic acid supplementation:

6a. Discuss reproductive options (e.g. assisted reproductive technologies, adoption, taking risk and no additional pregnancies) when appropriate: donor screen for CF gene mutations

b. Discuss prenatal diagnostic options/issues:

(or referral for discussion of)

a). DNA based diagnosis if CFTR mutation identifiable in both parents of the fetus. Method: CVS or amniocentesis

7. Review management recommendations/options including screening protocols:

8. Consider referral to: (medical specialties) CF specialty clinic

9. Address psychosocial issues including anticipatory guidance, patient and family reaction to diagnosis, need for community support services.

10. Address follow-up issues, such as genetic counseling for extended family members, including a plan for relaying test results:

11. Document clinic visit, including persons present, and subsequent substantive contacts (e.g. clinic note, +/- letter to referral source, +/- letter to family; other). Contact referring health care provider as appropriate.

12. Other issues to consider: DNA banking; genotype/phenotype correlations

13. References and/or other protocols:

The "Critical Element of Genetic Evaluation and Genetic Counseling" was written and approved by genetic professionals and perinatologists within the state of Washington. The document is to act as an aid to medical geneticists, genetic counselors, and perinatologists who practice within our state. This Critical Element of Genetic Evaluation and Genetic Counseling does not define the applicable standard of care, nor is it intended to dictate an exclusive course for the diagnosis, counseling, treatment or management of genetic conditions or birth defects. The authors acknowledge that appropriate clinical practices may vary depending upon a number of factors including, among others, the needs and choices of the individual patient, the resources available, and limitations unique to the particular institution or type of practice.

1. Review patient/family questions; reason for referral; knowledge base; perception of disease status and/or risk; what diagnoses have been considered; perceived notion of causation; assess need for professional interpreter:

2a. Using standard symbols, obtain family history (1st and 2nd degree relatives to consultand, and further removed as appropriate). Note ethnic background, consanguinity, ongoing pregnancies, and other significant family history.

b. Additional directed family history: perinatal loss (meconium ileus), childhood deaths, chronic lung disease, FTT (pancreatic insufficiency), infertility.

c. Obtain relevant medical records on patient/affected family member(s), including records on appropriate diagnostic testing/evaluation: sweat chloride and CFTR DNA mutation analysis, and on other family members as needed: DNA linkage study on parents of the fetus if CFTR mutation(s) not identifiable.

3. Obtain patient's past and current pregnancy history; documenting gestational age, Rh, prenatal exposures, pregnancy complications and pertinent prenatal testing to date.

4. Obtain patient's past medical history.

5. Obtain information on education, employment and social functioning as appropriate.

6. Assess family functioning and use of community resources, as appropriate. Assess personal (e.g. social, ethnocultural, religious) issues, including feelings about prenatal testing and consequences.

7. Assess ethical issues, such as confidentiality, insurability, discrimination and non-paternity.

8. Other issues to consider:

(this may occur in a series of multiple patient visits)

1a). Discuss risk of specific condition occurring in current pregnancy based on information available. Arrange for additional tests/evaluations on consultand and/or father of the baby if indicated: CFTR DNA mutation analysis on affected individual. For pregnancies at 25% risk, DNA linkage studies to establish if family is informative if mutation(s) are undetectable in affected individual.

b). Discuss sensitivity/specificity of test(s)/evaluation(s): e.g. ethnic background, # of mutations tested

c). Discuss referral of other family members for genetic testing/evaluation if inheritable disease is suspected and confirmation is necessary.

2a). Discuss general background risk for birth defects, including any additional risk based on family history/ethnicity/maternal age/maternal disease/maternal exposure/others:

b). Discuss inheritance pattern of disorder, including risk for future pregnancies:

3. Discuss the following issues related to natural history: prognosis, developmental outcome/intellectual functioning, anticipated possible medical complications, including pregnancy related risks for affected women if indicated, and preventive measures: current research and advances in CF therapy; fertility issues.

4a). Review prenatal testing options as indicated:

If CF mutation(s) identifiable by direct methods or if linkage analysis is informative:

b). Discuss risks and limitations of prenatal testing options, including sensitivity/specificity of test method(s):

5. Explore psychosocial impact of testing vs. non-testing, ethical issues, and discuss the decision making process. Refer to outside resources as appropriate to help with decision making. (Process includes the discussion of outcomes/results; additional testing; option of termination of pregnancy; grief and supportive counseling; pediatric follow up; and support groups).

6. Document status of decision making by patient/family.

7. Make arrangements for testing if desired and plan for relaying results and for follow-up.

8. Consider referral to specific community resources and support groups.

9. Document the clinic visit, including persons present, and subsequent substantive contacts (e.g. clinic note, +/- letter to referring source, +/- letter to family, other). Contact referring health care provider as appropriate.

10. Other issues to consider:

11. References and/or other protocols: