Chapter 18 Flashcards
genomic care
Genetics professionals are necessary to ensure that genomic care addresses the influences of a person’s genetic history on health and disease and is considered as parr of general assessment information for all ages of patients and families.
geneticsprofessionaL
Limplies that the individual
has extensive education and, often, special credenrialing
in some aspect of the broad genetics field. Such a pro-
fessional 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,
registered dietitian, physical therapist, pharmacist, or
physician, is not a genetics professional because genetics
was not the focus of her or his professional education.
Genetic counseling
defined as “the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease”
Nondirective
means that the person providing genetic information and coun- seling presents all facts and available options in a way that neither promotes nor excludes any decision or action (within legal boundaries).
Remaining nondirective can sometimes be very difficult because patients and families may feel overwhelmed and want someone else to make decisions. They want ro do the “right thing,” which may not be the same for everyone. Often, they ask the genetics professional pre- senting information, “What would you do?” Regardless of the specific genetic issue and the condition at hand, the patient and family members directly involved must ultimately make decisions that feel right for them.
certified genetic counselor (CGC)
-The most familiar genetics professional who performs genetic counseling is a certified genetic counselor.
-a professional in genetics who has a master’s degree in genetic counsel- ing from a graduate program accredited by the American Board of Genetic Counselors
Clinical geneticist
a person holding a Doctor of Medicine (MD) or Doctor of Osteopathic Medicine (DO) degree must complete a I-year residency of at least 12 months of direct patient care experi- ence. An additional 2 years of training is required for the individual to gain the competence to provide com- prehensive genetic diagnostic, management, therapeutic, and counseling services. The next level is a 2-year dual-board-approved residency ptogram in one of the specialty areas; these include Pediauics/Medical Genetics and Genomics, Internal Medicine/Medical Genetics and Genomics, Reproductive Endocrinology and Infertil- ity/Medical Genetics and Genomics, and Maternal Fetal Medicine/Medical Genetics and Genomics.
Clinical laboratory geneticist
either a physician with a medical degree (i.e., an MD or DO) or is a sci- entist with a PhD degree in genetics or biological science. Some clinical laboratory geneticists may have both a medical degree and a PhD.
medical geneticist
Despite the term medical in the title of medical geneticist, this individual is not a physician. A medical geneticist has a doctorate (PhD), most commonly in population genetics or epidemiology. As of 2008, this genetic specialty is no longer regulated by the ABMGG, although some medical geneticists still have valid certification. These individuals commonly work along with certified genetic counselors to provide accurate recurrence risk information for affected families. In addition, medical geneticists commonly teach in academic institutions.
Research geneticist
A research geneticist has a doctorate (PhD) in genetics or relevant biological science and has completed at least one 2- to 4-year postdoctoral program of specialized laboratory training in genetics. The focus of this careerisinlaboratoryor”bench”researchtoidentifyexactpathologicalmechanismsthatresultfromvarious genetic disorders and to develop possible therapeutic approaches, including gene therapy, to reduce the effects of the pathological mechanisms.
advanced-practice nurse in genetics (APNG)
The minimum requirements for the advanced-practice nurse in genetics (APNG) include practicing the equivalent of at least 2 years full time as a registered nurse, a master’s degree in nursing from an accredited program, completion of 30 continuing education hours in advanced generics/genomics applicable to nursing within the past 3 years, and accrual of 1,500 hours of practice hours in the specialty area of advanced genet- ics nursing in the past 3 years. The person must be currently licensed to practice in at least one state with evaluation by a supervisor or peer. The narrative required in the portfolio must address the four domains of professional development, professional and ethical nursing practice. teamwork and collaboration, and quality and safety.
genetics clinical nurse (GCN)
As noted, new certification as a genetics clinical nurse (GCN) is not currently available. However, renewal is performed through a professional portfolio review process by the ANCC rather than by examination.
Summary
Generic counseling is a process that commonly involves many team members and occurs in multiple sessions.
Most health-care professionals have littlr, if any, formal education in genetics and are not genetic experts.
-Thus, they are not genetics professionals and are not qualified to provide final, definitive information to patients and families at increased genetic risk for health problems.
All health-care professionals have the responsibility to assess genetic factors that influence the health status of any patient within their care.
-Other interdisciplinary health-care professionals also work with genetic diseases, and although they are not genetic counselors, their roles much me patient in different ways to provide accurate genetic resting results.
• All health-care professionals are expected to have basic competencies in genetics, but without additional education and credentialing, they are not considered “genetics professionals.”
• All health-care professionals have me responsibility to assess genetic factors that influence the health status of any patient within their care.
• To be a genetics professional, an individual must have an advanced degree in a genetics field from a program that has been accredited by either the American Board of Medical Genetics and Genomics or the American Board of Genetic Counselors or have completed a residency program accredited by the American Society of Medical Genetics. The person must also have current certification by one of these twO accrediting bodies.
• Providing information or performing genetic counseling, regardless of the title or level of the genetics or health-care professional, should always be done in a nondirective manner.
• An advanced-practice nurse nurse in genetics (APNG) can perform independent nursing and counsel- ing practice.
•Insurance companies require counseling at the level of a certified expert prior to testing.
• Determine whether any information obtained during patient assessment constitutes a “red Rag” for genetic risk.
• Organize data obtained by patient history assessment into a three-generation family pedigree.
• Be sure to check the accuracy of any genetic information you provide to a patient or family.
• Maintain confidentiality regarding any patient data, testing, or decisions.
• Work with other members of the health-care team to determine what type of genetics professional or
level of genetic counseling may be most appropriate for a specific patient or family thought to have an
increased genetic risk for a health problem.
• Keep in mind that the patient has the right to choose or refuse to have genetic testing and that he or she alone determines whether any of the information is shared with anyone.
• Determine whether the patient understands the genetic information provided to him or her.
Which statement made by a genetics professional to a woman who does not want to know the results of her BRCAll2 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.”
A
A 1-month-old infant has just been diagnosed with Gaucher disease, an inherited lysosomal srorage 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
C
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
D
