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Genetic Screening and Counseling

Niyomi De Silva, MD, Phillip Alvear, MD and Afsha Rais Kaisani, FAAFP, MD Reviewed 04/2024
 


BASICS

DESCRIPTION

  • Rapid advances in elucidating the genetic basis of disease have resulted in the need for both primary care and specialty physicians to perform genetic risk assessment in their practi...

DIAGNOSIS

HISTORY

  • History is important in assessing the need for genetic counseling including:

    • Documented medical history of both the patient and the patient's family.

    • Parental (or caregiver...

TREATMENT

GENERAL MEASURES

  • Following diagnosis of a particular condition, genetic counseling allows discussion of presently available treatment options and facilitates further medical or surgical care ...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

  • All genetic counseling sessions should result in the generation of a formal report to the referring physician, describing the indications for counseling, risk ass...

REFERENCES

1
US Preventive Services Task Force. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement. JAMA. 2019;...

ADDITIONAL READING

  • Hampel, H, Bennett RL, Buchanan A, et al; for Guideline Development Group, American College of Medical Genetics and Genomics Professional Practice and Guidelines Committe...

CODES

ICD10

  • Z31.5 Encounter for genetic counseling

  • Z13.79 Encounter for other screening for genetic and chromosomal anomalies

  • Z84.81 Family history of carrier of genetic disease

  • Z31.430 Encounter of femal...

CLINICAL PEARLS

  • Patient autonomy is the central tenet of genetic counseling, with provision of sufficient support to make informed decisions

  • The United States Preventative Services Task Force recommend...

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