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Genetic Screening and Counseling

Albert P. Sarno, Jr., MD, MPH, Elizabeth Schofield, MS, LCGC and John C. Smulian, MD, MPH Reviewed 06/2018
 


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

  • The content of genetics counseling includes the following:

    • Interpretation of family and medical histories to assess the probability of disease occurrence or recurrence

      • Three-generation ...

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 generation of a formal report to the referring physician, describing the indications for counseling, risk assessm...

REFERENCES

1
American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol. ...

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 in genetic counseling, and assuring that the patient has sufficient support to make decisions is vital.

  • There is general agreement that children sh...

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