Genetics and Genomics in Nursing and Health Care
Chapter 18
Health Professionals and
Genomic Care
***KNOW THE JOB
DESCRIPTIONS***
Genetics and Genomics in Nursing and Health Care
Genomic Care
 Ensuring that the influence of a person’s
genetic history on health and disease is
considered as part of general assessment
information for all patients and families
 Health-care professionals must not overlook
genetic issues
Genetics and Genomics in Nursing and Health Care
Genetic Professionals
 Extensive education and, often, special
credentialing in some aspect of genetics
 All health-care professionals are expected to
have a basic understanding of patterns of
inheritance and genetic terminology
Genetics and Genomics in Nursing and Health Care
Genetic Counseling
“The process of helping people understand
and adapt to the medical, psychological and
familial implications of genetic contribution
to disease occurrence or recurrence”
(National Society of Genetic Counselors, 2006)
Genetics and Genomics in Nursing and Health Care
Nondirective Counseling
Presents all facts and options in a way that
neither promotes nor excludes any decision
or action (within legal boundaries)
Genetics and Genomics in Nursing and Health Care
Certified Genetic Counselor
 A genetics professional who:
• Has a master’s degree in genetic counseling
from a graduate program accredited by the
American Board of Genetic Counselors
• Has passed a certification exam
Genetics and Genomics in Nursing and Health Care
Genetic Counselor
 Scope of practice
• Providing expertise in genetics
• Communicating/counseling patients and
families at genetic risk
• Ensuring that counseling services are delivered
in a manner that is consistent with professional
ethics and values
Genetics and Genomics in Nursing and Health Care
Clinical Geneticist
 Physician who:
• Graduated from an accredited school/college of
medicine
• Successfully completed a medical board
examination
• Is eligible for licensure and can become a clinical
geneticist
• Completed clinical specialty residency
• Completed a clinical genetics fellowship
Genetics and Genomics in Nursing and Health Care
Clinical Geneticist
 Sees patients with a wide variety of genetic
disorders
• Diagnosis
• Clinically management
• Counseling
 May be certified in cytogenetics, molecular
genetics, or biochemical genetics
Genetics and Genomics in Nursing and Health Care
Clinical Laboratory Geneticist
 MD, DO, or PhD-prepared scientist
 24-month fellowship in a program approved
by the American Board of Medical Genetics
 Certification exam: three subspecialties
• Cytogenetics
• Molecular genetics
• Biochemical genetics
Genetics and Genomics in Nursing and Health Care
Clinical Laboratory Geneticist
 Oversees and works in laboratories that
perform genetic tests
 Develops and implements new tests
 Provides quality assurance of routine tests
 Interprets test results
 Communicates results to health-care and
other genetic professionals
Genetics and Genomics in Nursing and Health Care
Medical Geneticist
 Not a physician
 Has a doctorate (PhD), most commonly in
population genetics or epidemiology
 Works with genetic counselors to provide
accurate recurrence-risk information
 Often teaches in academic institutions
Genetics and Genomics in Nursing and Health Care
Research Geneticist
 Has a doctorate (PhD) in genetics or
relevant biological science and completed
postdoctoral laboratory training in genetics
 May work with a clinical geneticist or a
certified genetic counselor to provide the
scientific details associated with a specific
disorder
Genetics and Genomics in Nursing and Health Care
Advanced-Practice Nurse in
Genetics (APNG)
 Master’s degree in nursing from an accredited
program that includes 50 hours of genetic content
 300 hours of supervised genetic practicum
experience, with > 50% practice component
 Evidence of effective teaching
 Certification through a professional portfolio
(certification currently not available)
Genetics and Genomics in Nursing and Health Care
Genetics Clinical Nurse (GNC)
 Certification through a professional portfolio
(certification currently not available)
 Licensed RN with BSN from an accredited
program
 Logs of 50 cases and 4 case studies reflecting the
standards of clinical genetics nursing
 45 contact hours of genetic content from academic
coursework or continuing education
Genetics and Genomics in Nursing and Health Care
The Role of the Generalist Nurse in
Genomic Care
 Verify information to bring a genetic problem to
light
 Look for cues that signal genetic problems
 Provide accurate information
 Ensure appropriate referral to genetic professional
 Serve as a patient advocate
 Maintain confidentiality
Genetics and Genomics in Nursing and Health Care
Which statement made by a genetics professional to a woman who
does not want to know the results of her BRCA1/2 genetic test
best demonstrates a nondirective approach?
a. “The results will be available in the future should you change
your mind.”
b. “It is important that you know these results before you decide
to have children.”
c. “By choosing not to know the results, you will derive no
benefit from this test.”
d. “You have a right to make that decision, but it is not being
fair to your family.”
Genetics and Genomics in Nursing and Health Care
Which statement made by a genetics professional to a woman who
does not want to know the results of her BRCA1/2 genetic test
best demonstrates a nondirective approach?
a. “The results will be available in the future should you change
your mind.”
b. “It is important that you know these results before you decide
to have children.”
c. “By choosing not to know the results, you will derive no
benefit from this test.”
d. “You have a right to make that decision, but it is not being
fair to your family.”
Genetics and Genomics in Nursing and Health Care
A 1-month-old infant has just been diagnosed with Gaucher
disease, an inherited lysosomal storage disorder. Which genetics
professional, together with a pediatrician, can best direct this
infant’s care?
a. Medical geneticist
b. Certified genetic counselor
c. Clinical geneticist
d. Research geneticist
Genetics and Genomics in Nursing and Health Care
A 1-month-old infant has just been diagnosed with Gaucher
disease, an inherited lysosomal storage disorder. Which genetics
professional, together with a pediatrician, can best direct this
infant’s care?
a. Medical geneticist
b. Certified genetic counselor
c. Clinical geneticist
d. Research geneticist
Genetics and Genomics in Nursing and Health Care
Which activity would a cytogeneticist be expected to perform as
part of genomic care?
a. Calculating recurrence risk for parents who have just had a child
with nondisjunction Down syndrome
b. Informing a patient that his test results are positive for a genetic
disorder
c. Requesting a consultation visit from a clinical geneticist
d. Detecting and interpreting chromosome abnormalities
Genetics and Genomics in Nursing and Health Care
Which activity would a cytogeneticist be expected to perform as
part of genomic care?
a. Calculating recurrence risk for parents who have just had a child
with nondisjunction Down syndrome
b. Informing a patient that his test results are positive for a genetic
disorder
c. Requesting a consultation visit from a clinical geneticist
d. Detecting and interpreting chromosome abnormalities
Genetics and Genomics in Nursing and Health Care
Which of the following positions for interdisciplinary professionals
in genetics interacts with the scientific community and public to
identify the impacts of scientific/medical advances from different
points of view?
a. Intellectual property or patent attorney
b. Bioethicist
c. Medical science liaison
d. Quality control specialist
Genetics and Genomics in Nursing and Health Care
Which of the following positions for interdisciplinary professionals
in genetics interacts with the scientific community and public to
identify the impacts of scientific/medical advances from different
points of view?
a. Intellectual property or patent attorney
b. Bioethicist
c. Medical science liaison
d. Quality control specialist