Section outline

  • In this topic, we will learn the principles of family history assessment using standardized pedigree symbols. As the family history is an important tool to assess for genetic risks, competence in family history assessment is imperative among genetic counselors. 

    • Watch the pre-recorded lecture video of Mercy Y. Laurino, LCGC, MS, PhD on the Principles of Family History Assessment and read the articles that follow. 

    • Standardized Human Pedigree Nomenclature File

      This paper by Bennett el al (2008) provides update on the standardized human pedigree nomenclature initially published in 1995. The updates were mostly stylistic in nature and still follow the general nomenclature put forth in 1995. They also tackle challenges in integrating family history assessment using electronic medical record, and issues on privacy and confidentiality. 

    • 1995 Publication on the Standard Human Pedigree Nomenclature File

      This seminal work describes the process by which the standard human pedigree nomenclature as we know today was developed. This provides a good historical background on the development of the nomenclature. 

    • Role Play Videos on Family History Assessment Page

      Family history assessment does not only enable health professionals, including genetic counselors, to arrive at a possible diagnosis and promote risk assessment, but it also builds rapport with our clients. In taking the family history, we balance the goal of getting an accurate history with being empathic and responsive to the immediate needs of our clients. View the role play video on family history taking and note the way the genetic counselor approached the client and the whole assessment. 

    • Beyond Circles and Squares File

      In this commentary by Tuite et al (2020), they propose new symbols that can be used to represent members of the Transgender and Gender Non-Binary (TGNB) community. 

    • Assessing transgender and gender non-conforming pedigree nomenclature in genetic counselors' practice File

      In this article by Sheehan et al (2020), they investigated on the extent by which genetic counselors are able to represent members of the Transgender and Gender Non-Binary (TGNB) in their family history assessment. 

    • Family Medical History Powerpoint File

      Here is the Powerpoint presentation on family medical history