abgc logbook requirements - university of north...
TRANSCRIPT
SERVICE TYPES
Fetal Risk Assessment
Prenatal Cases
Diagnosis and Management
Pediatric
Adult
Genetic Risk Assessment
Preconception
Cancer
Predictive Testing
Carrier screening
Family History Concerns
SERVICE TYPE: FETAL RISK ASSESSMENT ~
OBJECTIVES
Gain knowledge and experience discussing the various
options for prenatal diagnostic and screening tests
Be able to manage a case when there are time
constraints
Provide options and supportive counseling to families
who are found to have an affected fetus
Have experience working with families who are dealing
with the unique emotional issues surrounding prenatal
diagnosis
FETAL RISK ASSESSMENT
Clients whose primary concerns involve issues related
to prenatal testing or fetal health in a current pregnancy.
Includes individuals seen for maternal or paternal age,
serum marker screening, non-invasive prenatal testing,
fetal ultrasound anomalies or other abnormal prenatal
test results, and teratogen issues
Includes “previous child with genetic condition or birth
defect” if patient is pregnant and the focus is on prenatal
diagnosis and availability of testing
FETAL RISK ASSESSMENT
Patients included in this category must be pregnant
Primary indication or focus of session is the health of the
fetus
If patient referred for AMA, and a family history concern
is identified –case should be coded for primary
indication
Include all cases involving prenatal diagnosis, positive
maternal serum screening and/or non-invasive prenatal
testing, teratogenic exposure and abnormal ultrasound
evaluation
SERVICE TYPE: DIAGNOSIS AND MANAGEMENT ~
OBJECTIVES
Become familiar with clinical features and natural history
of a broad range of genetic conditions, birth defects and
syndromes of unknown etiology
Gain an understanding of the diagnostic process,
including dysmorphology, syndromology, physical
assessment, and genetically-based laboratory testing
Have experience working with individuals and families
who are dealing with the medical and psychosocial
issues related to living with genetic (or potentially
genetic condition).
DIAGNOSTIC EVALUATION / MANAGEMENT
Patients who are seen for diagnosis and/or
management of a genetic condition or possible genetic
condition, multiple congenital anomalies and/or birth
defects.
This session might include a physical examination
(performed by an M.D.), genetic testing, and discussion
of the diagnosis with the patient/ family.
For previously diagnosed individuals, this includes
individuals who return for medical management,
additional evaluation, or consultation.
SERVICE TYPE: GENETIC RISK ASSESSMENT ~
OBJECTIVES
Become familiar with determining risks based on
pedigree analysis, knowledge of inheritance patterns,
genetic epidemiological data, quantitative genetic
principles and computer based programs.
Be familiar with the range of genetic and other tests that
can be offered to either better refine a risk statistic or
determine an individual’s gene status
GENETIC RISK ASSESSMENT ~
OBJECTIVES
Gain experience communicating risk information and
various etiologies to individuals and families
Understand how individuals and families incorporate risk
statistics and biologically based etiological explanations
into their coping mechanisms
Have experience working with individuals and families
dealing with genetically derived personal health or
reproductive risks.
GENETIC RISK ASSESSMENT ~
TYPES OF CASES
Clients whose primary concerns involve issues related
to genetic risks for themselves (predisposition/ pre-
symptomatic evaluation), their offspring (preconception),
or relatives. This includes:
Clients who are themselves at risk for a genetic
condition but who are not currently symptomatic.
Individuals seen for genetic counseling regarding a
known or suspected genetic cancer syndrome, or a
late onset common complex disorder.
GENETIC RISK ASSESSMENT ~
PRECONCEPTION COUNSELING
Cases include family history concerns and previously
affected children
Clients seen for carrier screening, reproductive loss,
familial chromosome rearrangements, consanguinity,
and other family history concerns are included in this
category
Patients who request preconception counseling for
advanced maternal age are also included in this
category
GENETIC RISK ASSESSMENT ~
CANCER COUNSELING
All cancer risk assessments cases are included in this
category
Include type of cancer as primary indication
Note a personal and/or family history of cancer as
secondary indication
GENETIC RISK ASSESSMENT ~
PREGNANT PATIENTS
Pregnant patients may be included, if the focus of the
session is NOT the health of the current pregnancy.
Examples:
A pregnant woman may seek counseling regarding a
family history of breast cancer
A pregnant woman referred for counseling regarding
family history of CF and possible CF carrier
– might include discussion of options for
prenatal diagnosis
GENETIC RISK ASSESSMENT ~
ESTABLISHED DIAGNOSES
Patients with established diagnoses (for example seen
in multidisciplinary clinics) where the focus of the
genetic intervention is carrier testing/ family screening,
recurrence risk and prenatal options counseling
?
Service Type
# Core
Cases
# unique
indications/
diagnoses Specialty Examples
Fetal Risk
Assessment20 4 Prenatal
AMA, PSDS [1st,2nd
trimester, NIPD],
ultrasound anomaly,
teratogen
Diagnosis/
Management or
Genetic Risk
Assessment
13 4 Pediatric
4 unique
syndromes/disorders
[evaluation, testing, r/o]
5 2 Adult
2 unique
syndromes/indications;
includes family history
concerns
Genetic Risk
Assessment12 3 Cancer
Breast, ovarian, colon,
cancer syndromes
[affected, at risk]
Distribution of 50 Minimum Core Cases
UNIQUE INDICATIONS ~ EXAMPLES
Fetal Risk Assessment (20 cases - 4 unique indications)
Positive Screen for DS
Serum screening/ non-invasive testing
Advanced Maternal Age
Ultrasound abnormality (specify)
Previous child with ---
Each case must be coded with a primary indication
Secondary indications should be added to help identify the cases
UNIQUE INDICATIONS ~ EXAMPLES
Diagnosis/ Management
( 13 Pediatric Cases- 4 unique indications
5 Adult Cases - 2 unique indications)
Known genetic syndromes (affected)
Known genetic syndromes (r/o or suspected)
Unexplained developmental, growth problems
Birth defects
Each case must be coded with a primary indication
Secondary indications should be added to help identify the cases
UNIQUE INDICATIONS ~ EXAMPLES
Genetic Risk Assessment
Cancer risk assessment (12 cases - 3 unique indications)
Breast and/or ovarian
Colon cancer (FAP, HNPCC)
Other cancers/ cancer syndromes
Note:
• When designating the primary indication for cancer cases, you
may consider a personal history of cancer as unique from a family
history of cancer.
• You may also consider a mutation positive case as a separate
indication.
UNIQUE INDICATIONS ~ EXAMPLES
Genetic Risk Assessment
Non-cancer cases ( No minimum number of cases – these can be
included as unique indications in your Pediatric and Adult cases)
Consanguinity
Carrier testing
Family history concerns
Predictive testing
• Susceptibility
• Pre-symptomatic
Reproductive loss – recurrent miscarriages
Translocation carrier
LOGBOOK-ELIGIBLE CASES:
FUNDAMENTAL COUNSELING ROLES
To be considered a “logbook- eligible case”:
the clinical interaction must occur face-to-face
active student participation in at least 1 role in each of
the 3 categories of Fundamental Counseling Roles
(Management, Education, and Counseling) must be
documented.
MANAGEMENT ROLES
Case preparation
Collection/documentation of medical,
developmental and/or pregnancy history
Collection/documentation of family history/pedigree
Risk assessment
Evaluation/coordination of genetic
Clinical documentation (clinic notes, letters)
Other follow-up (calls, referrals)
EDUCATION ROLES
Develop counseling plan/agenda that includes pertinent
education issues to address
Inheritance patterns
Risk counseling
Diagnosis/prognosis/natural
Medical management/prevention/treatment
Genetic and/or prenatal testing options and possible
results/benefits/limitations
Results disclosure
Research options /consenting
COUNSELING ROLES
Establishing rapport/contracting
Psychosocial assessment
Psychosocial support/counseling
Resource identification/referral
Case processing/self-assessment/self-reflection
UNCG LOGBOOK CASES ~ SUPERVISION
All 50 cases that are included in your UNCG Logbook must be supervised by certified genetic counselors, ABMG or CCMG certified genetics professionals
At least 35 of these should be supervised by certified genetic counselors; others can be supervised by certified geneticists.
Some cases may be supervised by board-eligible, but not yet certified, genetic counselors
You can enter these as “logbook-eligible in your database, but you may not include them in your final UNCG Logbook of 50 cases.
UNCG LOGBOOK CASES ~ FUNDAMENTAL ROLES
All 50 cases that are included in your UNCG Logbook must meet “Core Cases” requirements
You should strive to use each of the 26 fundamental roles at least 3-4 times – more is better.
We know that there are fewer opportunities to perform some roles (i.e. presenting research options) – you should actively seek opportunities to perform these roles.
TRACKING YOUR CASES ~
UNCG LOGBOOK PROGRAM
Site name and number
Supervisor
Type of Case
Prenatal
Pediatric
Cancer
Adult
Primary Type of Service
Fetal Risk Assessment
Diagnosis/ Management
Risk Assessment
TRACKING YOUR CASES ~
UNCG LOGBOOK PROGRAM
Information about client
Pregnant?
Child or Adult?
Clinically affected?
Family Session?
Fundamental Counseling Roles
Management Roles
Education Roles
Counseling Roles
Logbook Eligible?
OTHER ACTIVITIES ~
NON-TRADITIONAL CLINICAL CASES
Non-face-to-face cases (e.g., phone genetic counseling and telemedicine cases)
Clinical experiences supervised by non-genetic providers (physicians, nurse practitioners, etc.)
Cases included in this category (optional) should demonstrate comprehensiveness of patient care in a non-face-to-face encounter.
This does not include observation-only cases
This does not include pedigree-only cases
Student and supervisor should work together to develop an appropriate plan of care
NON-TRADITIONAL CASES ~ EXAMPLES
oTeratogen hotline counseling
oTelemedicine
Quick telephone calls with callers seeking general
information about genetic issues or triage to traditional
clinic-based appointments do not qualify as
nontraditional clinical cases
NON-CLINICAL ACTIVITIES
Remember to continue using your Electronic Portfolio
to keep track of non-clinical activities such as:
Support groups or other community activities
Laboratory experiences
Community outreach/ educational programs
Health Fairs
Educational meetings (e.g. NCMGA)
Journal Club and/or Case Conferences at Clinical
Rotation sites