PHYSICAL EXAMINATION AND HEALTH
ASSESSMENT
9TH EDITION
• AUTHOR(S)CAROLYN JARVIS; ANN L.
ECKHARDT
TEST BANK
1)
Reference
Ch. 1 — Evidence-Based Assessment — Genetics and
Environment
Stem
A 29-year-old woman presents for a preconception visit. She
reports a family history of “neuromuscular disease” in two
maternal male relatives who had progressive weakness and
died in their 20s. Her physical exam is normal. She asks whether
she should have genetic testing before attempting pregnancy.
What is the best next step?
Page 1 of 988
,Options
A. Recommend no testing because her exam is normal and
family history is vague.
B. Arrange targeted carrier testing and referral to a genetic
counselor for X-linked disorders.
C. Order whole-exome sequencing immediately to detect any
mutation.
D. Advise prenatal ultrasound once pregnant; delay any genetic
evaluation until pregnancy.
Correct Answer
B
Rationales
Correct Option (B): The pattern (affected maternal male
relatives across generations) suggests a possible X-linked
condition; Jarvis recommends focused family history
interpretation and referral to genetics for counseling and
targeted carrier testing before conception to inform
reproductive decisions and risk. This is a safety-focused step
that balances diagnostic precision and patient autonomy.
Incorrect (A): Dismissing the family history because the current
exam is normal ignores inheritance patterns and misses
prevention opportunities; Jarvis emphasizes pedigree
evaluation even when the current exam is unremarkable.
Incorrect (C): Whole-exome sequencing is not first-line without
counseling and a targeted plan; it's resource-intensive and may
generate uncertain results.
Page 2 of 988
,Incorrect (D): Waiting until pregnancy delays timely
preconception counseling and may limit reproductive options;
Jarvis supports preconception risk identification.
Teaching Point
Suspect X-linked inheritance with affected males on the
maternal side; refer for genetic counseling.
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 52-year-old man brings a three-generation family history
showing his father and two siblings had colon cancer diagnosed
after age 70. He is asymptomatic. His BMI is 34, he eats a high-
red-meat diet, and he smokes. He asks what his risk is and what
to do. Which recommendation best reflects evidence-based
assessment incorporating genetics and environment?
Options
A. Start colonoscopy now because any family history mandates
early screening.
B. Recommend lifestyle modification and follow population
Page 3 of 988
, screening; no genetic testing indicated.
C. Order immediate genetic testing for familial adenomatous
polyposis (FAP).
D. Schedule CT colonography annually due to his obesity and
family history.
Correct Answer
B
Rationales
Correct Option (B): The family history of late-onset colon cancer
in first-degree relatives (>70) does not meet criteria for
hereditary syndromes; Jarvis emphasizes integrating family
history pattern and environmental risk factors — prioritize
lifestyle interventions and adherence to population screening
guidelines. This balances genetic vs environmental
contributions to risk.
Incorrect (A): Immediate early colonoscopy is indicated for
certain hereditary patterns (early onset, multiple relatives), not
isolated late-onset cases.
Incorrect (C): FAP is characterized by numerous polyps and early
onset; this pedigree doesn't fit and testing is unnecessary
without red flags.
Incorrect (D): Annual CT colonography is not evidence-based
and exposes the patient to unnecessary radiation; Jarvis
stresses appropriate, guideline-based screening.
Page 4 of 988
ASSESSMENT
9TH EDITION
• AUTHOR(S)CAROLYN JARVIS; ANN L.
ECKHARDT
TEST BANK
1)
Reference
Ch. 1 — Evidence-Based Assessment — Genetics and
Environment
Stem
A 29-year-old woman presents for a preconception visit. She
reports a family history of “neuromuscular disease” in two
maternal male relatives who had progressive weakness and
died in their 20s. Her physical exam is normal. She asks whether
she should have genetic testing before attempting pregnancy.
What is the best next step?
Page 1 of 988
,Options
A. Recommend no testing because her exam is normal and
family history is vague.
B. Arrange targeted carrier testing and referral to a genetic
counselor for X-linked disorders.
C. Order whole-exome sequencing immediately to detect any
mutation.
D. Advise prenatal ultrasound once pregnant; delay any genetic
evaluation until pregnancy.
Correct Answer
B
Rationales
Correct Option (B): The pattern (affected maternal male
relatives across generations) suggests a possible X-linked
condition; Jarvis recommends focused family history
interpretation and referral to genetics for counseling and
targeted carrier testing before conception to inform
reproductive decisions and risk. This is a safety-focused step
that balances diagnostic precision and patient autonomy.
Incorrect (A): Dismissing the family history because the current
exam is normal ignores inheritance patterns and misses
prevention opportunities; Jarvis emphasizes pedigree
evaluation even when the current exam is unremarkable.
Incorrect (C): Whole-exome sequencing is not first-line without
counseling and a targeted plan; it's resource-intensive and may
generate uncertain results.
Page 2 of 988
,Incorrect (D): Waiting until pregnancy delays timely
preconception counseling and may limit reproductive options;
Jarvis supports preconception risk identification.
Teaching Point
Suspect X-linked inheritance with affected males on the
maternal side; refer for genetic counseling.
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 52-year-old man brings a three-generation family history
showing his father and two siblings had colon cancer diagnosed
after age 70. He is asymptomatic. His BMI is 34, he eats a high-
red-meat diet, and he smokes. He asks what his risk is and what
to do. Which recommendation best reflects evidence-based
assessment incorporating genetics and environment?
Options
A. Start colonoscopy now because any family history mandates
early screening.
B. Recommend lifestyle modification and follow population
Page 3 of 988
, screening; no genetic testing indicated.
C. Order immediate genetic testing for familial adenomatous
polyposis (FAP).
D. Schedule CT colonography annually due to his obesity and
family history.
Correct Answer
B
Rationales
Correct Option (B): The family history of late-onset colon cancer
in first-degree relatives (>70) does not meet criteria for
hereditary syndromes; Jarvis emphasizes integrating family
history pattern and environmental risk factors — prioritize
lifestyle interventions and adherence to population screening
guidelines. This balances genetic vs environmental
contributions to risk.
Incorrect (A): Immediate early colonoscopy is indicated for
certain hereditary patterns (early onset, multiple relatives), not
isolated late-onset cases.
Incorrect (C): FAP is characterized by numerous polyps and early
onset; this pedigree doesn't fit and testing is unnecessary
without red flags.
Incorrect (D): Annual CT colonography is not evidence-based
and exposes the patient to unnecessary radiation; Jarvis
stresses appropriate, guideline-based screening.
Page 4 of 988
