| Case 1: Case Preparation involves reviewing all
relevant information about the client and the indication for genetic counseling prior
to the session. |
- In this case, the genetic counselor meets with Mary, a prenatal client with intellectual disabilities, and her
mother. The case explores issues of autonomy, legal rights, and support for individuals with intellectual disabilities.
The genetic counselor must consider who should be present and what topics should be covered in the genetic
counseling session.
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| Case 2: Contracting
refers to initiating the genetic counseling session, eliciting client concerns and expectations,
and establishing the agenda. |
- In this pediatric case, Julie is a new genetic counselor who wants
to use her Spanish language skills to counsel a family originally
from Mexico. The case explores background and practical
considerations when using interpreters in genetic counseling,
including using the TRANSLATE mnemonic tool.
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| Case 3: Eliciting Medical
History
implies the eliciting of pertinent medical information including
pregnancy, developmental and
medical histories, and environmental exposures. |
- In this case, Bianca Lynn is a pregnant prisoner seen for
genetic counseling due to an abnormal ultrasound. The genetic counselor
explores her personal emotional biases and
general lack of knowledge about prisoners and the prison
environment. These biases lead to making
assumptions about the client and negatively impact rapport in the
session. The case includes tips and resources on
taking a prisoner’s medical history, including pregnancy, medical
and mental health histories.
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Case 4: Pedigree involves the eliciting of information for and construction of a complete pedigree.
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- In this case, a lesbian couple seeks genetic
counseling related to advanced maternal age in an IVF pregnancy.
The case explores historical and personal issues
related to homophobia and the implications for clients. The case presents various perspectives on sexual identity development,
what defines “family” as well as practical approaches for obtaining
family history and family relationship information documented in a
pedigree and/or genogram.
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| Case 5: Risk Assessment/Inheritance/Counseling
involves pedigree analysis and evaluation of medical and laboratory data to determine recurrence/occurrence risks and educate clients about risks and modes of inheritance. |
- In this cancer genetic counseling case, Jean is referred for
counseling due to a family history of breast cancer. The intake
form indicates that Jean is Deaf and the session will be facilitated
by an ASL interpreter. The case explores the challenges of managing
risk assessment and risk counseling with a Deaf client, discusses the
importance of non-verbal communication and how nonverbal cues may be
misinterpreted, and demonstrates how the PRACTICE mnemonic can be helpful
in guiding the content of the culturally responsive genetic counseling session.
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| Case 6: Discuss Diagnosis and Natural History
includes conveying genetic, medical,
and technical information about the diagnosis, etiology, natural history, prognosis, and treatment/management
of genetic conditions and/or birth defects. |
- This case explores issues in genetic counseling refugees,
specifically the family of Asad, an eight year old with sickle cell
disease. The genetic counselor must appreciate
the challenges posed to clients who enter the U.S. as refugees. The
mnemonic ETHNIC is used to help explain the diagnosis and natural
history of sickle cell disease to the family in a way that is
consistent with their cultural and religious values and beliefs.
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Case 7: Testing Options, Interpretation, and Results Discussion
includes explaining the technical
and medical aspects of diagnostic and screening methods
and reproductive options, including associated risks, benefits, and limitations, as well
as clearly interpreting results. |
- This case explores religion and spirituality in genetic counseling. Ori and Tal turn to prayer in the
genetic counseling session. The couple's fetus has significant birth defects detected by ultrasound. The
case incorporates religious and spiritual assessment tools to facilitate exploration and integration of
clients' religious beliefs and practices in discussions of genetic testing options, decisions, and results.
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Case 8: Psychosocial Assessment, Support and Counseling includes eliciting and evaluating social and
psychological histories and assessing clients' psychosocial needs, and providing short-term, client-centered counseling,
psychosocial support, and anticipatory guidance to the family as well as addressing client concerns.
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- In this case, the genetic counselor meets with an
Asian American couple due to prenatal diagnosis of
amniotic bands in their fetus. The case explores
dynamics between the young couple given the potential
influence of eastern cultural values. Cultural
assessment tools such as Kleinman’s questions and LEARN
can be helpful in understanding client perceptions of a
diagnosis. Reframing, role playing and other counseling
strategies are suggested to facilitate communication
between the husband and wife and their family, and
between the couple and the genetic counselor.
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Case 9: Resources/Referral/Follow
Up includes identifying local, regional, and
national support groups and other resources in the community,
conducting literature reviews, reporting test results, writing
letters to the family and/or referring physician(s), and
maintaining contact with the family to address any additional
concerns. |
- This case takes place in a cancer genetics research setting.
The genetic counselor is charged with recruiting children of
consanguineous couples from Middle East descent into a
genome-wide association study. The case explores issues and
implications of consanguinity, developing appropriate
written materials when working with individuals of limited
English proficiency and/or low health literacy,
consideration of lay beliefs about genetics, and research
ethics.
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