Medical Genetics
genetics testing should be done in - answer conjunction with genetics counseling
genetic counseling is not necessarily tied to - answer genetic testing
Genetic Counseling who does it - answer Genetic counselors,
PA
advanced practice nurses
clincal gentitcs
physician
nurses
what is a Genetic Counselor - answer Health professional with specialized graduate
degree and experience in medical genetics and counseling
genetic counselor has a - answermaster of science degree or clinical doctorate
genetic counselor takes what exam - answerboard certification exam
certified genetic counselor Or C.G.C
genetic counselor need a - answerlicense to practice in Nebraska
Genetic Counselor provides - answernon-directive counseling. person-centered
counseling
help the patient reach decision that is best for them.
The process integrates: - answer• Interpretation of family and medical histories to
assess the chance of disease
occurrence or recurrence.
Education about inheritance, testing, management, prevention, resources and research.
Counseling to promote informed choices and adaptation to the risk or condition.
Genetic counseling is the process of - answerhelping people understand and adapt to
the medical, psychological and familial implications of the genetic contribution to
disease.
Typically performed in two visits - answer
Pre-test Genetic Counseling - answer• Psychosocial Assessment• Personal medical
history• Family medical history/medical pedigree • Risk Assessment• Molecular Testing•
Pretest Counseling• Informed Consent• Sample Collection
, • All PAs should be able to: - answergather genetic family history information, including
an appropriate
multigenerational pedigree.
• identify and appropriately determine referral of patients who would benefit from genetic
services.
Medical pedigree - answerDiagram that records family history information.
Tool for converting information provided by the patient and/or
obtained from the medical record into a standardized format.
Different Functions of a Pedigree - answerAllows provider to assess a patient's
understanding.
Provides a quick mechanism for considering information about
patient risk.
Assists in patient education - able to discuss genetic risks, relevant test, and further
actions.
Can be easily updated, and important information can later be located more easily as
compared to a narrative report.
Different Functions of a Pedigree cont.. - answerFoster empathy and leads to greater
rapport
Puts the patient in the role of the expert and the provider in a one- down position -
helpful when patients feel out of control or are mistrustful of health care providers
Makes patients feel listened to and eases anxiety
May alleviate guilt by showing patient the big picture
Offers clues about the patient's worldview, values, perceptions, lifestyle, religion, ethnic
and cultural background and family dynamics
family history is - answerStandard of Practice
Family History is Standard of Practice - answerEvery patient, in any practice setting
should have family history as part of their medical record.
Minimum three to four-generation pedigree.*
Standardized pedigree nomenclature.
Paternal and maternal histories.*
Ancestry/Ethnicity.
Consanguinity.
remember - answerto be aware of cultural differences. Individuals from different
backgrounds tend to have quite different explanations for the causes of conditions and
have different expectations. (See LA Times Article in Canvas.)
SCREEN mnemonic - answerSC: some concern: do you have concerns about diseases
?
R: reproduction : problems getting pregnant
E: early disease death or disability " die at early age"
genetics testing should be done in - answer conjunction with genetics counseling
genetic counseling is not necessarily tied to - answer genetic testing
Genetic Counseling who does it - answer Genetic counselors,
PA
advanced practice nurses
clincal gentitcs
physician
nurses
what is a Genetic Counselor - answer Health professional with specialized graduate
degree and experience in medical genetics and counseling
genetic counselor has a - answermaster of science degree or clinical doctorate
genetic counselor takes what exam - answerboard certification exam
certified genetic counselor Or C.G.C
genetic counselor need a - answerlicense to practice in Nebraska
Genetic Counselor provides - answernon-directive counseling. person-centered
counseling
help the patient reach decision that is best for them.
The process integrates: - answer• Interpretation of family and medical histories to
assess the chance of disease
occurrence or recurrence.
Education about inheritance, testing, management, prevention, resources and research.
Counseling to promote informed choices and adaptation to the risk or condition.
Genetic counseling is the process of - answerhelping people understand and adapt to
the medical, psychological and familial implications of the genetic contribution to
disease.
Typically performed in two visits - answer
Pre-test Genetic Counseling - answer• Psychosocial Assessment• Personal medical
history• Family medical history/medical pedigree • Risk Assessment• Molecular Testing•
Pretest Counseling• Informed Consent• Sample Collection
, • All PAs should be able to: - answergather genetic family history information, including
an appropriate
multigenerational pedigree.
• identify and appropriately determine referral of patients who would benefit from genetic
services.
Medical pedigree - answerDiagram that records family history information.
Tool for converting information provided by the patient and/or
obtained from the medical record into a standardized format.
Different Functions of a Pedigree - answerAllows provider to assess a patient's
understanding.
Provides a quick mechanism for considering information about
patient risk.
Assists in patient education - able to discuss genetic risks, relevant test, and further
actions.
Can be easily updated, and important information can later be located more easily as
compared to a narrative report.
Different Functions of a Pedigree cont.. - answerFoster empathy and leads to greater
rapport
Puts the patient in the role of the expert and the provider in a one- down position -
helpful when patients feel out of control or are mistrustful of health care providers
Makes patients feel listened to and eases anxiety
May alleviate guilt by showing patient the big picture
Offers clues about the patient's worldview, values, perceptions, lifestyle, religion, ethnic
and cultural background and family dynamics
family history is - answerStandard of Practice
Family History is Standard of Practice - answerEvery patient, in any practice setting
should have family history as part of their medical record.
Minimum three to four-generation pedigree.*
Standardized pedigree nomenclature.
Paternal and maternal histories.*
Ancestry/Ethnicity.
Consanguinity.
remember - answerto be aware of cultural differences. Individuals from different
backgrounds tend to have quite different explanations for the causes of conditions and
have different expectations. (See LA Times Article in Canvas.)
SCREEN mnemonic - answerSC: some concern: do you have concerns about diseases
?
R: reproduction : problems getting pregnant
E: early disease death or disability " die at early age"
