Question 1

Which action reflects promotion of genomic care as part of comprehensive health care?

Accepted Answer

Genomic care is 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. This does not mean that all patients should have some sort of genetic testing. Rather, it means that all health-care professionals are obligated to avoid overlooking genetic issues that may affect an individual's health or risk for health problems. The patient determines with whom, if anyone, to share genetic test results. Calculation of odds ratios and recurrence risks is not part of general health care.

Question 2

Why do genetic counseling programs include extensive courses on laboratory methods in genetics?

Accepted Answer

Genetic counseling programs do include extensive laboratory methods courses, not because a certified genetic counselor (CGC) is expected to perform these tests as part of his or her role, but to ensure that the counselor has adequate background to help patients and families understand testing procedures and results. This is especially important for those tests that require weeks to complete. Genetic counselors do not draw blood, nor do they perform any laboratory techniques, including generating a karyotype, unless they have also completed additional training and are officially certified for such actions.

Question 3

Which activity would a general registered nurse be expected to perform as part of genomic care?

Accepted Answer

A genetics professional has extensive education and, often, special credentialing in some aspect of the broad genetics field. Such a professional is an expert in one or more areas of genetics. By this criterion, a person with an entry-level degree in a health-care profession, such as a registered nurse, is not a genetics professional because genetics was not the focus of her or his professional education. However, all health-care professionals are expected to have at least a basic understanding of the general patterns of inheritance and genetic terminology as well as to be able to construct an accurate three-generation pedigree from assessment information.

Question 4

Awoman's family history for breast cancer includes two paternal aunts who developed breast cancer before age 45. Which genetics professional would be most appropriatefor assistance in helping this patient understand the health risk posed by this family history?

Accepted Answer

A genetic counselor focuses on direct communication with and counseling of patients and families at potential risk for genetic problems. Even though a clinical geneticist may also provide genetic counseling, his or her primary responsibilities are diagnosing and clinically managing patients with a wide variety of genetic disorders. A medical geneticist has a doctorate (PhD), most commonly in population genetics or epidemiology. These individuals often work along with genetic counselors to provide accurate recurrence risk information for affected families but have little, if any, preparation in counseling. A clinical laboratory geneticist also has minimal, if any, counseling preparation or experience.

Question 5

Which genetics professional has the defined responsibility for overseeing the work in a cytogenetic laboratory?

Accepted Answer

A clinical laboratory geneticist is either a physician with an MD or a DO (doctor of osteopathy) degree or a PhD degree in genetics or relevant biological science. Specialty training for certification is an additional 24-month fellowship in a program approved by the American Board of Medical Genetics (ABMG). These individuals can then be certified by examination through the ABMG in at least one of three subspecialties: cytogenetics, molecular genetics, or biochemical genetics. A technician (laboratory or cytogenetic) performs the actual test under the direction of a clinical laboratory geneticist but does not interpret the tests or warrant the quality of the work. A medical geneticist does not perform or oversee genetic testing.

Question 6

Acertified family nurse practitioner with an MSN degree in family practice who works in a clinic serving patients who have connective tissue disorders refersto himself as a clinical geneticist. Is this title appropriate?

Accepted Answer

Only a physician who has completed training in a clinical specialty residency, such as pediatrics, internal medicine, obstetrics/gynecology, or another relevant specialty, and completed a clinical genetics fellowship in a program accredited by the American Board of Medical Genetics can be called a clinical geneticist. Additionally, the clinical geneticist must acquire initial certification and continue to remain current within the specialty to maintain certification. An MSN-prepared nurse practitioner, even with a certified specialty in genetics, is not a clinical geneticist.

Question 7

The patient who has been found to have a mutation in a gene allele that greatly increases her risk for a serious health problem has asked a generalist nurse tobe present when she discloses this information to her family. What is the nurse's role in this situation?

Accepted Answer

The nurse is supporting the client emotionally while she tells the family the information she learned about the test results. The nurse is neither interpreting the results nor counseling the patient and family about what steps to take next. This situation does not require an advocate role.

Question 8

How do genetics counselors provide genetic/genomic information to patients and families in a nondirective manner?

Accepted Answer

Nondirective counseling provides all the relevant facts and options available and allows the patient/family to make the decision that is right for them. The counselor does not recommend any course of action but supports whatever action the patient and/or family decides to take. This type of counseling almost always provides more information than the patient requests because most patients have little background in genetics.

Question 9

Jessica (aged 32) is BRCA1 positive, which is known to greatly increase the risk for breast and ovarian cancer. She was tested because her mother, who had ovarian cancer, was BRCA1 positive. Jessica has decided to have both of her ovaries removed because she believes that, in her family, being BRCA1 positive increases the risk for ovarian cancer only. How should a genetic counselor respond to Jessica's statement?

Accepted Answer

Clarifying misconceptions is a responsibility that can be met while still being nondirective. Jessica can still choose to have only her ovaries removed, but she does need to know her risk for breast cancer in order to come to an informed decision. Encouraging her to have a mastectomy is directive rather than nondirective. Only Jessica can determine whom in her family to inform.

Question 10

Why are general physicians and surgeons not considered to be genetics professionals?

Accepted Answer

The title of genetics professional implies that the individual has extensive education and often, special credentialing in some aspect of the broad genetics field. By these criteria, a person with an entry-level degree in a health-care profession, such as registered nurse, registered dietitian, physical therapist, pharmacist, or physician/surgeon, is not a genetics professional because genetics was not the focus of his or her professional education. Although knowledge of genetics laboratory techniques is helpful to genetics professionals, clinical geneticists are not expert technicians. Acute health problems often have a genetic input to the disorder, as does the patient's response to therapy.

Question 11

Which statement or criterion is a required component for certification as an Advanced-Practice Nurse in Genetics (APNG)?

Accepted Answer

One of the minimum criteria is the completion of a log of 50 cases within 5 years of the application and four written case studies that reflect the standards of clinical genetics nursing practice developed by the International Society of Nurses in Genetics (ISONG). The candidate must also complete 300 hours of supervised genetic practicum experiences as a clinical genetic nurse, with the genetic practice component being greater than 50%. A master's degree in nursing from an accredited program is required, but a DNP or PhD and a 2-year residency are not.

Quiz 18: Health Professionals and Genomic Care