PHYSICAL EXAMINATION AND HEALTH
ASSESSMENT
9TH EDITION
• AUTHOR(S)CAROLYN JARVIS; ANN L.
ECKHARDT
TEST BANK
1)
Reference
Ch. 1 — Evidence-Based Assessment — Genetics &
Environment: Family History and Risk Assessment
Stem (2–4 sentences)
A 36-year-old woman presents for a well visit and brings a 3-
generation family health summary showing two first-degree
relatives (mother and sister) diagnosed with early-onset breast
cancer (ages 42 and 45). She has no palpable masses on breast
exam and denies B-symptoms. Her vital signs are normal. Based
on Jarvis’ evidence-based family-history approach, what is the
most appropriate next clinical action?
Page 1 of 987
,Options
A. Reassure and schedule routine age-appropriate
mammography only.
B. Refer for genetic counseling and consider BRCA1/2 testing.
C. Order diagnostic bilateral breast MRI immediately.
D. Start chemoprevention with tamoxifen now.
Correct answer
B
Rationale — Correct (3–4 sentences)
Jarvis emphasizes that a strong family history (two first-degree
relatives with early-onset breast cancer) raises hereditary risk;
referral for genetic counseling is the evidence-based next step
to evaluate hereditary breast–ovarian cancer syndromes.
Genetic counseling will assess pedigree details, guide
appropriate genetic testing (e.g., BRCA1/2 or panel testing), and
inform surveillance and risk-reduction options. This step
prioritizes informed decision-making and targeted risk
stratification.
Rationale — Incorrect
A. Reassure and routine mammography only — Inadequate;
fails to address high hereditary risk and misses cascade
implications; Jarvis supports targeted evaluation when family
history is concerning.
C. Order diagnostic MRI immediately — MRI is for screening in
high-risk patients but should follow risk confirmation and
counseling; jumping to imaging bypasses genetic evaluation.
Page 2 of 987
,D. Start tamoxifen now — Chemoprevention requires confirmed
risk discussion and specialist input; starting medication without
counseling/testing is premature and not aligned with Jarvis’
staged approach.
Teaching point (≤20 words)
Two first-degree relatives with early cancer → genetic
counseling referral before surveillance or treatment decisions.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
2)
Reference
Ch. 1 — Evidence-Based Assessment — Genetics &
Environment: Penetrance, Expressivity, and Clinical Variability
Stem
A 28-year-old man with a family history of Huntington disease
(father affected at 46) asks why his 52-year-old aunt with the
same mutation shows only mild motor changes while his father
had severe decline. He is asymptomatic. Using Jarvis’ genetics
principles, which explanation best accounts for variability?
Options
A. Variable expressivity and age-dependent penetrance.
B. The aunt likely does not carry the mutation.
C. Huntington disease shows complete penetrance and identical
Page 3 of 987
, phenotype in carriers.
D. Environmental toxins fully determine severity, not genetics.
Correct answer
A
Rationale — Correct
Jarvis explains that autosomal dominant disorders like
Huntington disease can show age-dependent penetrance and
variable expressivity—carriers may manifest symptoms at
different ages and with different severity. This explains why
relatives with the same mutation can differ clinically; counseling
should reflect this variability and recommend genetic
counseling/testing and baseline assessment.
Rationale — Incorrect
B. Aunt likely does not carry mutation — Unsupported; she may
carry the mutation but show milder expressivity. Family history
alone cannot exclude carrier status.
C. Complete penetrance identical phenotype — Incorrect;
Huntington has high penetrance but variable age at onset and
severity.
D. Environmental toxins fully determine severity — Overstated;
environment modifies expression but does not fully replace
genetic effects per Jarvis.
Teaching point
Penetrance and expressivity explain variable clinical
presentations among genetic relatives.
Page 4 of 987
ASSESSMENT
9TH EDITION
• AUTHOR(S)CAROLYN JARVIS; ANN L.
ECKHARDT
TEST BANK
1)
Reference
Ch. 1 — Evidence-Based Assessment — Genetics &
Environment: Family History and Risk Assessment
Stem (2–4 sentences)
A 36-year-old woman presents for a well visit and brings a 3-
generation family health summary showing two first-degree
relatives (mother and sister) diagnosed with early-onset breast
cancer (ages 42 and 45). She has no palpable masses on breast
exam and denies B-symptoms. Her vital signs are normal. Based
on Jarvis’ evidence-based family-history approach, what is the
most appropriate next clinical action?
Page 1 of 987
,Options
A. Reassure and schedule routine age-appropriate
mammography only.
B. Refer for genetic counseling and consider BRCA1/2 testing.
C. Order diagnostic bilateral breast MRI immediately.
D. Start chemoprevention with tamoxifen now.
Correct answer
B
Rationale — Correct (3–4 sentences)
Jarvis emphasizes that a strong family history (two first-degree
relatives with early-onset breast cancer) raises hereditary risk;
referral for genetic counseling is the evidence-based next step
to evaluate hereditary breast–ovarian cancer syndromes.
Genetic counseling will assess pedigree details, guide
appropriate genetic testing (e.g., BRCA1/2 or panel testing), and
inform surveillance and risk-reduction options. This step
prioritizes informed decision-making and targeted risk
stratification.
Rationale — Incorrect
A. Reassure and routine mammography only — Inadequate;
fails to address high hereditary risk and misses cascade
implications; Jarvis supports targeted evaluation when family
history is concerning.
C. Order diagnostic MRI immediately — MRI is for screening in
high-risk patients but should follow risk confirmation and
counseling; jumping to imaging bypasses genetic evaluation.
Page 2 of 987
,D. Start tamoxifen now — Chemoprevention requires confirmed
risk discussion and specialist input; starting medication without
counseling/testing is premature and not aligned with Jarvis’
staged approach.
Teaching point (≤20 words)
Two first-degree relatives with early cancer → genetic
counseling referral before surveillance or treatment decisions.
Citation
Jarvis, C., & Eckhardt, A. L. (2023). Physical Examination and
Health Assessment (9th ed.). Ch. 1.
2)
Reference
Ch. 1 — Evidence-Based Assessment — Genetics &
Environment: Penetrance, Expressivity, and Clinical Variability
Stem
A 28-year-old man with a family history of Huntington disease
(father affected at 46) asks why his 52-year-old aunt with the
same mutation shows only mild motor changes while his father
had severe decline. He is asymptomatic. Using Jarvis’ genetics
principles, which explanation best accounts for variability?
Options
A. Variable expressivity and age-dependent penetrance.
B. The aunt likely does not carry the mutation.
C. Huntington disease shows complete penetrance and identical
Page 3 of 987
, phenotype in carriers.
D. Environmental toxins fully determine severity, not genetics.
Correct answer
A
Rationale — Correct
Jarvis explains that autosomal dominant disorders like
Huntington disease can show age-dependent penetrance and
variable expressivity—carriers may manifest symptoms at
different ages and with different severity. This explains why
relatives with the same mutation can differ clinically; counseling
should reflect this variability and recommend genetic
counseling/testing and baseline assessment.
Rationale — Incorrect
B. Aunt likely does not carry mutation — Unsupported; she may
carry the mutation but show milder expressivity. Family history
alone cannot exclude carrier status.
C. Complete penetrance identical phenotype — Incorrect;
Huntington has high penetrance but variable age at onset and
severity.
D. Environmental toxins fully determine severity — Overstated;
environment modifies expression but does not fully replace
genetic effects per Jarvis.
Teaching point
Penetrance and expressivity explain variable clinical
presentations among genetic relatives.
Page 4 of 987
