Principles of Genetic Counseling
Reed's Definition of Genetic Counseling (1955) - answer Its a kind of social work which
is often medical but not always so.
Requirements included:
- Some knowledge of human genetics
- Deep respect for the sensitivities, attitudes, and reactions of the
client
- A desire to teach, and to teach the truth to the fun extent that it
is known
Function: to provide people with an understanding of the genetic problems they have in
their families
Identified Issues of blame: Social stigma, shame, resentment, and maternal guilt
No informed consent
ASHG (American Society of Human Genetics) Definition of Genetic Counseling (1975) -
answerGC is a communication process, which deals with the human problems
associated with the occurrence, or the risk of an occurrence, of a genetic disorder in a
family. This process involves an attempt by one or more appropriately trained persons
to help the individual of family to (1) comprehend the medical facts, including the
diagnosis, probable course of the disorder, and the available management (2)
appreciated the way heredity contributes to the disorder, and the risk of occurrence is
specified relatives (3) understand the alternatives for dealing with the risk of occurrence
(4) choose the course of action which seems to them appropriate in view of their risk;
their family goals, and their ethical and religious standards, to act in accordance with the
decision and (5) to make the best possible adjustments to the disorder in an affected
family member and/or the risk of recurrence of the disorder
Process - medical/genetics elements
Education
No emphasis on counseling/psychosocial
Briefly mentions training
NSGC (1983) Definition of Genetic Counseling - answerGenetic Counselors are health
professionals with specialized graduate degrees and experience in the areas of medical
genetics and counseling. Most enter the field from a variety of disciplines, including
biology, genetics, nursing, psychology, public health, and social work
Genetic Counselors work as members of a health care team, providing information and
support to families who have members with birth defects or genetic disorders and to
families who may be at risk for a variety of inherited conditions. They identify families at
risk, investigate the problem present in the family, interpret recurrence and review
available options with the family
,Genetic counselors are provide supportive counseling to families, serve as patient
advocates and refer individuals and families to community or state support services.
They serve as educators and respire people for other health care professionals and for
the general public. Some counselors also work in administrative capacities. Many
engage in research activities related to the field of medical genetics and genetic
counseling.
Counselor focused: Roles/do
Doesn't talk about process
Mentions needing a degree
NSGC (2005) Definition of Genetic Counseling - answerGC is the process of helping
people understand and adapt to the medical, psychological, and familial implications of
the genetic contributions to disease. This process integrates:
- 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 adaptiaontion to the risk or condition
Counseling Process focused: Education and Counseling
Broad
Board decides who can be GC, so doesn't need to be in definition
Genomic Genetic Counseling - answerGoing from doing reactive GC towards more
disease prevention with Genomic Counseling
the process by which a person gets informed about his or her genome often in the
setting of elective genetic and genomic testing. ... Access of consumers to complete
personal genomes through cheap full genome sequencing is likely to exacerbate this
problem in the near future
Scope for Genetic Testing - answerIncreased # of conditions tested for - switching being
single gene focussed to be able to test for more conditions - more to talk about. Need to
know more about risk reducing behaviors, screening
Increased # of results - Increased # of "positives" and VUS results
Increased time spent with clinicians
Pre-Clinic Phase: Intake - answerOpportunity to obtain/establish
1. Provide opportunity for family/medical history - expectations
2. Establish Relationship - build rapport
3. Collect information about demographics - insurance, where do they live,
environmental impacts, cost, pre-authorization
4. Cost, Preauthorization for insurance
5. Make initial clinical observations
6. Logistical Stuff - where to go, medical records
, Pre-Clinic Phase: Preparation - answerReview: medical, family, history, referral (why
are they there?)
Perform: pre-case, research, literature
Team members meet to plan visit: who is going to do what when
Consider: Potential Diagnosis (Differential)
Define: Responsibilities within group
If GC has not yet spoken to family, make preliminary phone call to establish rapport,
determine primary concerns, and remind family of need to bring photos, information
Initial Appointment/Diagnostic Visit: Contracting - answerAgreement between GC and
client(s)
Contracting never stops - you are constantly reassessing
1. Establish goals
2. Set an Agenda
3. Assess the clients concerns, clarify, misconceptions
Say hello, establish who patient is, introduce yourself
What brought you to clinic today? Can you tell me how you thought we could help? -
Listen!
It was our understanding that Dr. ____ referred you for _____. Is that correct?
Let me tell you what we like to accomplish today. I'd like to start with asking you some
questions and taking a family history, and then Dr. ______ is going to come in and give
you a physical exam, and then we are going to discuss your diagnosis, testing options,
and answer any of your questions. Does that sound good to you?
Initial Appointment/Diagnostic Visit: History Taking - answerPrenatal, Developmental,
Medical, Psychosocial, and Family/Pedigree (min 3 generations, sometimes 4)
1. Obtain appropriate histories for the referral reason
2. Obtain family history pedigree - Minimum of 3 generations, sometimes 4 generations
for cancer. Patient + siblings, parents, kids, grandkids, cousins
3. Obtain psychosocial History - don't ask straight out. How are they coping with with the
diagnosis?
Initial Appointment/Diagnostic Visit: Physical Examination - answerDepends on type of
session
1. General physical examination VS. Dysmorphology examination - looking for
details/clues that other health care professionals don't look for. Measure ears, distance
between eyes, etc.
Pregnant patient may do physical exam to determine if she has a genetic condition that
can be passed on.
2. Type of session: General, Cancer (Can have physical characteristics)
Initial Appointment/Diagnostic Visit: Discussions of Findings among Team Members -
answer1. Differential Diagnosis - based on my findings it could be ___
2. What additional info, testing should we be thinking about before going back into the
room
Reed's Definition of Genetic Counseling (1955) - answer Its a kind of social work which
is often medical but not always so.
Requirements included:
- Some knowledge of human genetics
- Deep respect for the sensitivities, attitudes, and reactions of the
client
- A desire to teach, and to teach the truth to the fun extent that it
is known
Function: to provide people with an understanding of the genetic problems they have in
their families
Identified Issues of blame: Social stigma, shame, resentment, and maternal guilt
No informed consent
ASHG (American Society of Human Genetics) Definition of Genetic Counseling (1975) -
answerGC is a communication process, which deals with the human problems
associated with the occurrence, or the risk of an occurrence, of a genetic disorder in a
family. This process involves an attempt by one or more appropriately trained persons
to help the individual of family to (1) comprehend the medical facts, including the
diagnosis, probable course of the disorder, and the available management (2)
appreciated the way heredity contributes to the disorder, and the risk of occurrence is
specified relatives (3) understand the alternatives for dealing with the risk of occurrence
(4) choose the course of action which seems to them appropriate in view of their risk;
their family goals, and their ethical and religious standards, to act in accordance with the
decision and (5) to make the best possible adjustments to the disorder in an affected
family member and/or the risk of recurrence of the disorder
Process - medical/genetics elements
Education
No emphasis on counseling/psychosocial
Briefly mentions training
NSGC (1983) Definition of Genetic Counseling - answerGenetic Counselors are health
professionals with specialized graduate degrees and experience in the areas of medical
genetics and counseling. Most enter the field from a variety of disciplines, including
biology, genetics, nursing, psychology, public health, and social work
Genetic Counselors work as members of a health care team, providing information and
support to families who have members with birth defects or genetic disorders and to
families who may be at risk for a variety of inherited conditions. They identify families at
risk, investigate the problem present in the family, interpret recurrence and review
available options with the family
,Genetic counselors are provide supportive counseling to families, serve as patient
advocates and refer individuals and families to community or state support services.
They serve as educators and respire people for other health care professionals and for
the general public. Some counselors also work in administrative capacities. Many
engage in research activities related to the field of medical genetics and genetic
counseling.
Counselor focused: Roles/do
Doesn't talk about process
Mentions needing a degree
NSGC (2005) Definition of Genetic Counseling - answerGC is the process of helping
people understand and adapt to the medical, psychological, and familial implications of
the genetic contributions to disease. This process integrates:
- 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 adaptiaontion to the risk or condition
Counseling Process focused: Education and Counseling
Broad
Board decides who can be GC, so doesn't need to be in definition
Genomic Genetic Counseling - answerGoing from doing reactive GC towards more
disease prevention with Genomic Counseling
the process by which a person gets informed about his or her genome often in the
setting of elective genetic and genomic testing. ... Access of consumers to complete
personal genomes through cheap full genome sequencing is likely to exacerbate this
problem in the near future
Scope for Genetic Testing - answerIncreased # of conditions tested for - switching being
single gene focussed to be able to test for more conditions - more to talk about. Need to
know more about risk reducing behaviors, screening
Increased # of results - Increased # of "positives" and VUS results
Increased time spent with clinicians
Pre-Clinic Phase: Intake - answerOpportunity to obtain/establish
1. Provide opportunity for family/medical history - expectations
2. Establish Relationship - build rapport
3. Collect information about demographics - insurance, where do they live,
environmental impacts, cost, pre-authorization
4. Cost, Preauthorization for insurance
5. Make initial clinical observations
6. Logistical Stuff - where to go, medical records
, Pre-Clinic Phase: Preparation - answerReview: medical, family, history, referral (why
are they there?)
Perform: pre-case, research, literature
Team members meet to plan visit: who is going to do what when
Consider: Potential Diagnosis (Differential)
Define: Responsibilities within group
If GC has not yet spoken to family, make preliminary phone call to establish rapport,
determine primary concerns, and remind family of need to bring photos, information
Initial Appointment/Diagnostic Visit: Contracting - answerAgreement between GC and
client(s)
Contracting never stops - you are constantly reassessing
1. Establish goals
2. Set an Agenda
3. Assess the clients concerns, clarify, misconceptions
Say hello, establish who patient is, introduce yourself
What brought you to clinic today? Can you tell me how you thought we could help? -
Listen!
It was our understanding that Dr. ____ referred you for _____. Is that correct?
Let me tell you what we like to accomplish today. I'd like to start with asking you some
questions and taking a family history, and then Dr. ______ is going to come in and give
you a physical exam, and then we are going to discuss your diagnosis, testing options,
and answer any of your questions. Does that sound good to you?
Initial Appointment/Diagnostic Visit: History Taking - answerPrenatal, Developmental,
Medical, Psychosocial, and Family/Pedigree (min 3 generations, sometimes 4)
1. Obtain appropriate histories for the referral reason
2. Obtain family history pedigree - Minimum of 3 generations, sometimes 4 generations
for cancer. Patient + siblings, parents, kids, grandkids, cousins
3. Obtain psychosocial History - don't ask straight out. How are they coping with with the
diagnosis?
Initial Appointment/Diagnostic Visit: Physical Examination - answerDepends on type of
session
1. General physical examination VS. Dysmorphology examination - looking for
details/clues that other health care professionals don't look for. Measure ears, distance
between eyes, etc.
Pregnant patient may do physical exam to determine if she has a genetic condition that
can be passed on.
2. Type of session: General, Cancer (Can have physical characteristics)
Initial Appointment/Diagnostic Visit: Discussions of Findings among Team Members -
answer1. Differential Diagnosis - based on my findings it could be ___
2. What additional info, testing should we be thinking about before going back into the
room
