Module overview
Section 5 of 6 · Open sections

Required section · Section 5 of 6

Choose bounded report language

Report wording claiming that CYP2D6 *1/*4 proves normal metabolism except for paroxetine confuses a genotype-derived phenotype with current drug exposure and ignores the no-function *4 allele. It also overstates what a targeted assay can exclude.

The defensible report states CYP2D6 *1/*4, activity score 1.0, and predicted Intermediate Metabolizer using the named current translation. It names tested targets and unexcluded rare or structural variants, then cites the evidence source and date. The current paroxetine exposure belongs in a separately bounded clinical-context statement, not in a rewritten genotype.

For CYP2C19, *2 and *3 are no-function alleles and *17 is increased function. A *2/*17 diplotype remains Intermediate Metabolizer because *17 does not offset the no-function allele on the other chromosome. Release what the assay and translation support, then route drug-specific action to current adopted guidance and qualified interpretation.

Ordering exercise

Put the report construction steps in the order that prevents a medication recommendation from being mistaken for an assay result.

  1. 1. Attach current external context

    Name applicable guidance or labeling, version/date, and its role.

  2. 2. Translate phenotype

    Apply the stated current diplotype-to-phenotype criteria.

  3. 3. State method and scope

    Name targets, copy-number handling, and limitations.

  4. 4. Assign diplotype

    Resolve star alleles and phase when supported.

Knowledge checks

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Knowledge check 1

Which report wording is most defensible for the *1/*4 case?

Choose one option.

Knowledge check 2

What phenotype is supported for CYP2C19 *2/*17 under the cited CPIC mapping?

Choose one option.

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