PHYSICAL EXAMINATION AND HEALTH
ASSESSMENT
9TH EDITION
• AUTHOR(S)CAROLYN JARVIS; ANN L.
ECKHARDT
1
Reference
Ch. 1 — Evidence-Based Assessment — Genetics and
Environment
Stem
A 29-year-old woman presents for a preconception visit and
reports a family history of cystic fibrosis (CF): her sister is
affected and her partner reports no known family history. She
is asymptomatic; newborn screening in her sister was positive.
You perform a family history focused exam and obtain a three-
generation pedigree. Which action best aligns with evidence-
based assessment and immediate patient safety?
Page 1 of 985
,A. Reassure the patient; recommend routine prenatal care
without further testing.
B. Offer carrier testing to the patient and then to the partner if
she is a carrier.
C. Order prenatal diagnostic testing (chorionic villus sampling)
now because her sister has CF.
D. Refer the patient immediately for IVF with preimplantation
genetic testing.
Correct answer: B
Rationale — Correct (B)
Jarvis emphasizes targeted history and risk-based testing: with
a first-degree relative affected by an autosomal recessive
condition, offer carrier testing to the patient first to determine
risk. This approach is evidence-based, minimally invasive, and
guides need for partner testing and prenatal options. It
supports safe, staged decision-making rather than invasive
procedures without confirmed risk.
Rationale — Incorrect
A. Reassurance alone ignores increased carrier risk from an
affected sibling and misses an opportunity for informed
reproductive decision-making.
C. Immediate invasive prenatal diagnostic testing is premature
without establishing maternal carrier status.
D. Immediate referral for IVF with PGT is an advanced option
but not first-line; it’s invasive, costly, and premature before
carrier testing.
Page 2 of 985
,Teaching Point
First test the at-risk parent; proceed to partner testing only if a
carrier is identified.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
2
Reference
Ch. 1 — Evidence-Based Assessment — Genetics and
Environment
Stem
A 45-year-old man brings a completed family health history
form showing three relatives (mother, maternal aunt,
maternal grandfather) with early-onset coronary artery
disease (before age 55). He has no symptoms but asks about
his risk. Which interpretation best reflects evidence-based
assessment and next steps?
A. His risk is equivalent to the general population; advise
standard prevention only.
B. The clustering suggests a familial predisposition; counsel
increased surveillance and lifestyle modification.
C. Recommend immediate genetic testing for a single “heart
disease gene.”
Page 3 of 985
, D. Tell him he will definitely develop coronary disease because
of family clustering.
Correct answer: B
Rationale — Correct (B)
Jarvis supports interpreting family clustering as a signal of
increased familial risk rather than deterministic causation. The
correct action is risk counseling, focused prevention, and
possibly earlier screening depending on guidelines—
combining genetic and environmental contributions. This
balances evidence, avoids deterministic language, and
prioritizes preventive care.
Rationale — Incorrect
A. Downplays the familial clustering and misses opportunity
for earlier risk reduction.
C. There is no single diagnostic gene for most common
coronary artery disease; broad polygenic and environmental
factors are involved.
D. Family history increases risk but is not a certainty; this
deterministic statement is unsupported and unhelpful.
Teaching Point
Clustered early-onset disease in first-degree relatives increases
risk—prioritize prevention and tailored surveillance.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
Page 4 of 985
ASSESSMENT
9TH EDITION
• AUTHOR(S)CAROLYN JARVIS; ANN L.
ECKHARDT
1
Reference
Ch. 1 — Evidence-Based Assessment — Genetics and
Environment
Stem
A 29-year-old woman presents for a preconception visit and
reports a family history of cystic fibrosis (CF): her sister is
affected and her partner reports no known family history. She
is asymptomatic; newborn screening in her sister was positive.
You perform a family history focused exam and obtain a three-
generation pedigree. Which action best aligns with evidence-
based assessment and immediate patient safety?
Page 1 of 985
,A. Reassure the patient; recommend routine prenatal care
without further testing.
B. Offer carrier testing to the patient and then to the partner if
she is a carrier.
C. Order prenatal diagnostic testing (chorionic villus sampling)
now because her sister has CF.
D. Refer the patient immediately for IVF with preimplantation
genetic testing.
Correct answer: B
Rationale — Correct (B)
Jarvis emphasizes targeted history and risk-based testing: with
a first-degree relative affected by an autosomal recessive
condition, offer carrier testing to the patient first to determine
risk. This approach is evidence-based, minimally invasive, and
guides need for partner testing and prenatal options. It
supports safe, staged decision-making rather than invasive
procedures without confirmed risk.
Rationale — Incorrect
A. Reassurance alone ignores increased carrier risk from an
affected sibling and misses an opportunity for informed
reproductive decision-making.
C. Immediate invasive prenatal diagnostic testing is premature
without establishing maternal carrier status.
D. Immediate referral for IVF with PGT is an advanced option
but not first-line; it’s invasive, costly, and premature before
carrier testing.
Page 2 of 985
,Teaching Point
First test the at-risk parent; proceed to partner testing only if a
carrier is identified.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
2
Reference
Ch. 1 — Evidence-Based Assessment — Genetics and
Environment
Stem
A 45-year-old man brings a completed family health history
form showing three relatives (mother, maternal aunt,
maternal grandfather) with early-onset coronary artery
disease (before age 55). He has no symptoms but asks about
his risk. Which interpretation best reflects evidence-based
assessment and next steps?
A. His risk is equivalent to the general population; advise
standard prevention only.
B. The clustering suggests a familial predisposition; counsel
increased surveillance and lifestyle modification.
C. Recommend immediate genetic testing for a single “heart
disease gene.”
Page 3 of 985
, D. Tell him he will definitely develop coronary disease because
of family clustering.
Correct answer: B
Rationale — Correct (B)
Jarvis supports interpreting family clustering as a signal of
increased familial risk rather than deterministic causation. The
correct action is risk counseling, focused prevention, and
possibly earlier screening depending on guidelines—
combining genetic and environmental contributions. This
balances evidence, avoids deterministic language, and
prioritizes preventive care.
Rationale — Incorrect
A. Downplays the familial clustering and misses opportunity
for earlier risk reduction.
C. There is no single diagnostic gene for most common
coronary artery disease; broad polygenic and environmental
factors are involved.
D. Family history increases risk but is not a certainty; this
deterministic statement is unsupported and unhelpful.
Teaching Point
Clustered early-onset disease in first-degree relatives increases
risk—prioritize prevention and tailored surveillance.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
Page 4 of 985
