A Genetic Counseling Cultural Competence Toolkit

Genetic Counseling Cases Main Menu

Click on a step in the genetic counseling process below to launch a case, which will open in a new window. Move through each case by using the menu of topics on the left side of each case, or by using the numbered pages on the bottom of the case webpages. Click on Main Menu to return to this page.


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.
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.
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.
Case 4: Pedigree involves the eliciting of information for and construction of a complete pedigree.
  • 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.
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.
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.
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.
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.
  • 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.
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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