Chapter 7 Genetic Considerations

Question 1

What has genetic science expanded into over the past 50 years?

Answer 1

A key component in clinical medicine

The expansion includes genomic tools, resources, and guidelines.

Question 2

What are primary care providers now expected to conduct?

Answer 2

• Genomic risk assessments
• Counsel patients
• Make referrals to specialists
• Select diagnostic or genetic tests
• Consider ethical, legal, and social implications

These expectations are part of integrating genetics into patient care.

Question 3

What term describes the interaction of many genes and their environments?

Answer 3

Genomics

Coined in 1987, genomics reflects the complex interactions influencing disease risk.

Question 4

What are single-gene disorders?

Answer 4

• Sickle cell anemia
• Huntington disease

These disorders have straightforward inheritance patterns and affect millions worldwide.

Question 5

What is the difference between personalized medicine and precision medicine?

Answer 5

• Personalized medicine: Uses genetic information for decision-making
• Precision medicine: Includes genomic, epigenomic, exposure, and behavioral data

Precision medicine expands the concept of personalized medicine.

Question 6

What does epigenomics study?

Answer 6

Modifications to cellular DNA influencing gene expression

This occurs without altering the primary DNA sequence.

Question 7

What is whole exome sequencing (WES) used for?

Answer 7

• Uncover disease predisposition in newborns
• Genetic diagnosis
• Disease treatment
• Screening
• Drug discovery
• Prenatal diagnosis

WES is being integrated with electronic health records for better patient outcomes.

Question 8

What are multigene panel tests?

Answer 8

Tests that provide genetic sequencing for multiple genes associated with diseases

They are more cost-effective than testing one gene at a time.

Question 9

True or false: Many health care providers feel well-prepared to provide genomic health care.

Answer 9

FALSE

Many providers report feeling poorly prepared due to a lack of emphasis on genetics in their training.

Question 10

What is the first step in assessing risk for individuals and their families?

Answer 10

Taking a good family history

Family history can highlight common diseases and guide genetic testing.

Question 11

What are the three categories of disease risk?

Answer 11

• Average or population risk
• Moderate risk
• Increased or high risk

These categories help guide screening and preventive measures.

Question 12

What does the Gail model assess?

Answer 12

Breast cancer risk

It is one of the commonly used empirical risk models.

Question 13

What is the overarching goal of risk assessment?

Answer 13

Recognize disease early or identify asymptomatic individuals at increased risk

This allows for appropriate preventive measures to be initiated.

Question 14

What is the significance of family history in risk assessment?

Answer 14

It can reveal disease clusters and guide genetic testing

Family history is often called the ‘first genetic test.’

Question 15

What are some examples of high-risk conditions for colorectal cancer?

Answer 15

• Lynch syndrome
• Polyposis syndromes (e.g., FAP, Peutz-Jeghers syndrome)

Individuals with these conditions require enhanced surveillance.

Question 16

What is the critical safety rule regarding moving a victim who may have injured their spine?

Answer 16

Never move them unless their current location presents an immediate danger to their life

Moving a victim with a potential spinal injury may lead to permanent paralyzation.

Question 17

Individuals at high risk for colon cancer include those with which syndromes?

Answer 17

• Lynch syndrome
• Classic familial adenomatous polyposis (FAP)
• Attenuated FAP
• MUTYH-associated polyposis
• Peutz-Jeghers syndrome
• Juvenile polyposis syndrome
• Serrated polyposis syndrome

Enhanced colorectal surveillance is required for these individuals.

Question 18

What should be considered for individuals with a strong personal and/or family history of colon cancer?

Answer 18

Referral to a genetic specialist

This is important for assessing genetic predisposition to the disease.

Question 19

In the risk assessment model, what are the important elements to analyze clients’ disease risk?

Answer 19

• Personal history (medical, surgical, behavioral)
• Physical assessment
• Family history (three generation minimum)
• Diagnostic results (labs, X-rays, genetic tests)
• Decision making
• Referral and interprofessional collaboration

This model helps in identifying threats and planning prevention strategies.

Question 20

What does the acronym GENES stand for in identifying red flags in family history?

Answer 20

• G = groups of anomalies
• E = early or extreme manifestation of common diseases
• N = neurodevelopmental or neurodegenerative conditions
• E = exception or unusual pathologic findings
• S = surprising laboratory findings

These indicators may suggest an underlying genetic condition.

Question 21

True or false: A pedigree is used to systematically gather family history information.

Answer 21

TRUE

It helps in identifying patterns of disease and genetic risks.

Question 22

What are the features of autosomal dominant (AD) inheritance?

Answer 22

• Individuals affected in each generation
• Males and females equally affected
• Vertical transmission pattern

Examples include Lynch syndrome and Huntington disease.

Question 23

What is a common pattern of inheritance seen in autosomal recessive (AR) disorders?

Answer 23

Horizontal pattern of inheritance

Both parents are typically unaffected carriers.

Question 24

What is the significance of X-linked disorders in family history?

Answer 24

They often manifest exclusively in male family members

Males are affected due to having only one X chromosome.

Question 25

What is the role of **genetic testing** in primary care?

Answer 25

* Testing for gene mutations related to single-gene disorders * Panel testing for preconception reproductive carrier risk * Cancer predisposition screening * Pharmacogenomic testing ## Footnote Genetic testing can guide prescribing and risk assessment.

Question 26

What should be included in the **family history** assessment?

Answer 26

* Significant health history * Age of disease onset * Cause and age of death * Environmental exposures ## Footnote This information helps in identifying genetic risks and patterns.

Question 27

Examples of **X-linked disorders** include:

Answer 27

* Hemophilia * Fragile X syndrome * Red-green color blindness * Duchenne muscular dystrophy ## Footnote These disorders are linked to genes on the X chromosome and may affect males more severely.

Question 28

What is the purpose of **genetic testing** in primary care?

Answer 28

* Testing for gene mutations related to single-gene disorders * Panel testing for preconception reproductive carrier risk * Cancer predisposition screening * Pharmacogenomic testing to guide prescribing ## Footnote Providers should understand different types of genetic tests and their indications.

Question 29

What do **chromosomal tests** examine?

Answer 29

Chromosome structure for large abnormalities such as duplications, translocations, or microdeletions ## Footnote Karyotyping is a method used to identify chromosomal disorders.

Question 30

What is **Sanger sequencing**?

Answer 30

A method developed in 1977 to determine the nucleotide and resulting base sequence of a section of DNA ## Footnote It is time and labor-intensive but known for its accuracy.

Question 31

What does **next-generation sequencing** allow for?

Answer 31

Sequencing an individual’s entire genome in a single day ## Footnote Millions of DNA fragments are sequenced in parallel.

Question 32

What is the role of **pharmacogenomic testing**?

Answer 32

Provides insight regarding an individual’s ability to metabolize drugs based on genetic variations ## Footnote It helps guide prescribing and dosing of medications.

Question 33

What is the **CYP450 system**?

Answer 33

A system in the liver responsible for drug metabolism ## Footnote Many genetic markers in pharmacogenomic testing panels are part of this enzyme system.

Question 34

What is the **Genetic Testing Registry**?

Answer 34

A website sponsored by the US National Center for Biotechnology Information that serves as a repository for available genetic tests ## Footnote It helps providers identify available genetic tests for various conditions.

Question 35

What are **red flags** in individual medical history?

Answer 35

* Dysmorphic features * Learning disabilities or behavioral problems * Movement disorders * Unexplained infertility * Congenital or juvenile deafness, blindness, or cataracts ## Footnote These indicators may suggest a genetic condition.

Question 36

What is the significance of a **three-generation pedigree**?

Answer 36

Evaluates potential risk based on first-degree relatives ## Footnote It is a first-line measure for assessing genetic risk.

Question 37

True or false: **Direct-to-consumer genetic testing** allows individuals to order genetic tests without involving a health care provider.

Answer 37

TRUE ## Footnote This raises concerns about the accuracy of results and lack of counseling.

Question 38

What does the **Genetic Information Nondiscrimination Act** address?

Answer 38

Concerns about employment or health insurance discrimination based on genetic information ## Footnote It protects individuals from being discriminated against due to genetic predispositions.

Question 39

What are some **examples of online genetic resources**?

Answer 39

* FORCE—Facing Our Risk of Cancer Empowered * National Organization for Rare Disorders * Genetics MedlinePlus * Genetic and Rare Diseases Information Center ## Footnote These resources provide assistance and support for patients and families.

Question 40

What does **GINA** stand for?

Answer 40

Genetic Information Nondiscrimination Act ## Footnote GINA protects individuals from discrimination based on genetic information in health coverage and employment.

Question 41

In what year was **GINA** signed into law?

Answer 41

2008 ## Footnote GINA was signed into law by President George W. Bush on May 21, 2008.

Question 42

What are the **health insurance protections** under GINA?

Answer 42

* Genetic information cannot be used for eligibility, coverage, underwriting, or premium-setting decisions * Insurers may not request genetic information for these purposes * Does not cover individuals who are symptomatic or diagnosed with a genetic condition ## Footnote GINA ensures that genetic information is not used against individuals in health insurance contexts.

Question 43

What are the **employment protections** under GINA?

Answer 43

* Employers cannot use genetic information for hiring, promotion, or termination decisions * Employers may not request or require genetic information * Does not cover individuals who are symptomatic or diagnosed with a genetic condition ## Footnote GINA protects employees from discrimination based on genetic information in the workplace.

Question 44

True or false: GINA protects individuals from discrimination based on genetic information when qualifying for life insurance.

Answer 44

FALSE ## Footnote GINA does not protect individuals from discrimination in life insurance, disability insurance, or long-term care insurance.

Question 45

What significant legislation was proposed in March 2017 that could affect genetic information privacy?

Answer 45

HR 1313 ## Footnote This bill would allow employers to require genetic information disclosure and could loosen ACA requirements.

Question 46

What is the role of **genetic education, counseling, and testing** in genomic health assessment?

Answer 46

* Collect structured personal and family history * Identify genetic red flags * Refer to appropriate genetics consultants ## Footnote These steps are critical for effective risk assessment and personalized health care.

Question 47

What is the significance of **advanced genomic technologies** in health care?

Answer 47

* Identify disease risk * Provide personalized screening and surveillance * Improve treatment options ## Footnote Technologies like molecular profiles and genetic testing are essential for precision medicine.

Question 48

What does the term **precision medicine** refer to?

Answer 48

An approach to health care that uses genetic information to tailor treatments ## Footnote Precision medicine aims to provide more effective treatments based on individual genetic profiles.

Question 49

What is an example of a **genetic disorder** mentioned in the text?

Answer 49

Cystic fibrosis ## Footnote The text includes a fictitious pedigree example illustrating inheritance patterns of cystic fibrosis.

Question 50

What is the purpose of **risk assessment** in genomic health?

Answer 50

To identify individuals at risk for genetic conditions ## Footnote Risk assessment is the first step in genomic health assessment and involves collecting detailed family histories.

Question 51

Fill in the blank: The **American College of Medical Genetics** is a professional organization for _______.

Answer 51

clinical genetics specialists ## Footnote This organization provides resources and support for professionals in the field of genetics.