Disclaimer

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: pregnancy losses, infant deaths, males or females with developmental disabilities (including mental retardation, learning difficulties, special education), regression or plateauing of skills, autism, seizures, thyroid disorder, cerebral palsy, ADHD, institutionalization, psychosis, emotional disorder, alcoholism, drug abuse.

c. Obtain relevant medical records on patient, including records of 1).appropriate tests/evaluations: prenatal and birth records, results of newborn screening, growth data, especially OFC, pediatric, neurologic, and genetic evaluations, including chromosome analysis, FISH, DNA testing, metabolic testing, imaging studies, EEG, EMG results 2). records bearing on management: developmental testing/psychometric and school evaluations, and 3). on other family members as needed: developmental disabilities, epilepsy.

3. Obtain prenatal and perinatal history of patient, including prenatal exposures, pregnancy complications and prenatal testing, when appropriate: maternal diabetes, PKU, thyroid disorders, EtOH and drug exposures.

4. Obtain past medical history (including environmental/occupational exposures) focusing on:

5. Obtain information on growth and development, including school placement. For adult, also obtain information on education, employment and social functioning: results of formal testing including motor, language, psychometric, and psychological.

6. Assess family functioning and use of community resources. Assess personal, social, religious, ethnocultural issues: observe family interactions during appointment

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

8 Perform general physical examination of patient and other family members if indicated, with attention to: growth parameters including ht, wt, OFC and percentiles, and other physical measurements as indicated; body odor; minor or major malformations; coarsening of features; quality and quantity of hair; Wood's lamp examination of the skin as indicated; hepatosplenomegaly; neurologic abnormalities, spasticity/hypotonia, weakness, ataxia, and other movement disorders; voice quality and speech pattern including velo-pharyngeal incompetence; level of activity, affect, attention span, social skills, inappropriate behaviors, including self-stimulation and self-multilization.

9. Other issues to consider: Other family members with ongoing pregnancy; reproductive issues for patient, establishment of legal guardianship for mentally retarded persons > 18 years of age.

(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:

4. Review inheritance pattern (including penetrance and expressivity): depends on final diagnosis; empiric numbers may be appropriate if no diagnosis established (see references).

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. Include any additional risk based on family history/ethnicity/maternal age/maternal disease/maternal exposure/others:

6a. Discuss reproductive options (e.g. assisted reproductive technologies, adoption, taking risk and no additional pregnancies) when appropriate:

b. Discuss prenatal diagnostic options/issues: dependent upon etiology determined.

(or referral for discussion of)

7. Review management recommendations/options including screening protocols: Special education.

8. Consider referral to: Developmental Pediatrics, Psychology, Psychiatry, Social Work Services, Neurology, Rehabilitation Medicine, Physical Therapy, Occupational Therapy, speech therapy, and nutrition services.

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: depending on diagnosis, plan follow-up in 2-3 years or earlier if parents are planning an additional pregnancy or become pregnant.

11. Document clinic visit, including persons present, and subsequent substantive contacts (e.g. clinic note, +/- letter to referral source, +/- letter to family; other). Document length of visit

12. Other issues to consider: If patient is an adult, level of understanding of genetic counseling, issues of informed consent, and legal guardianship

13. References and/or other protocols:

15. Gibson KM et al; The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-hydroxybutyric aciduria): Case Reports of 23 New Patients. Pediatr 99:567,1997.

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: pregnancy losses, infant deaths, males or females with developmental disabilities (including mental retardation, learning difficulties, special education), regression or plateauing of skills, autism, seizures, thyroid disorder, cerebral palsy, ADHD, institutionalization, psychosis, emotional disorder, alcoholism, drug abuse.

c. Obtain relevant medical records on patient/affected family member(s), including records on appropriate diagnostic testing/evaluation: chromosome analysis, FISH, DNA analysis (including Fragile X), metabolic testing, neuroimaging testing, EEG or EMG results, medical genetics, neurology and other specialty evaluations, and on other family members as needed:

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: Clarify mother’s carrier or affected status based on diagnosis of affected relative.

b. Discuss sensitivity/specificity of test(s)/evaluation(s):

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: Empiric numbers may be appropriate if no diagnosis is established (see references).

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:

4a. Review prenatal testing options as indicated:

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, 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). Document length of visit.

10. Other issues to consider: Level of understanding of genetic counseling, issues of informed consent, and legal guardianship.

11. References and/or other protocols:

5. Bundley S, Thake A, Todd J: The recurrence risks for mild idiopathic mental retardation. J Med Genet 26:260, 1989.