Pedigree

Pedigrees and Genograms

In 1995, the Pedigree Standardization Task Force of the National Society of Genetic Counselors proposed a system of pedigree nomenclature. In 2008, Bennett et al. assessed those recommendations to ensure that they were meeting the current needs of health professionals. New standards were published in this article (Bennett, Doyle, French and Resta, 2008) that included a few changes pertaining to the GLBT community specifically. A diamond is used to represent transgender persons as well as persons who do not specify a gender and those who have congenital disorders of sex development. Bennett et al. also depicted the current nomenclature and symbols for assisted reproductive technology pregnancies. The same sex relationship can be noted in the pedigree, by using two female symbols joined with a relationship line. Standardized pedigree nomenclature was clarified by Bennett, French, Resta and Austin, 2022 on "the use of symbols and language in the description of the distinction between sex and gender, with a view to ensuring safe and inclusive practice for people who are gender-diverse or transgender".

In our case, the genetic counselor’s family history intake protocol should include eliciting information on both members of the couple, Lisa and Jamie, as well as inquiring about the health and family history of the sperm donor. The genetic counselor demonstrates respect for the couple’s relationship by asking about Jamie’s previous relationships and whether she had any pregnancies or children (step-siblings to Lisa and Jamie’s current pregnancy). The pedigree is created based on biological relationships, but when drawing the pedigree, the genetic counselor should also use the conversation with the couple as an opportunity to identify family dynamics (Hampel et al., 2009).

Family is not a standard term with a uniform definition that is agreed upon by all. It is helpful to ask every client which people he or she considers to be family. These people may be an essential part of the client’s life during his or her pregnancy, testing, diagnosis, or treatment. Further documentation of family dynamics can be made by creating a genogram. Many family therapists, family physicians, and other healthcare providers regularly use genograms. While genograms are similar to pedigrees in that they include biological relatives, they also include information about the sociocultural context of relationships (Estrada & Haney, 1998). Genograms cover at least three generations and have been used to clarify family patterns and roles, to engage the family in a session, to change the focus on certain issues, and to connect families to their history of spirituality, immigration, education or other factors under discussion. Genograms span three time perspectives-past, present, and future-which can help clients draw on previously unnoticed strengths in relationships, realize differences in previous generations, and consider current accomplishments (Kuhl, Barnard, & Nelson, 1998). Genograms can identify relationships with immediate family, coworkers, acquaintances, partners, and friends (Gerson, McGoldrick, & Petry, 2008). Genograms can cover marriage and divorce patterns, extramarital relationships, infertility and adoption, health and illness, self-esteem, birth order, and addictions (DeMaria, Hof, & Weeks, 1999). They are useful because they are clear illustrations of complex family patterns. Genograms portray the family’s relationships and functioning in a format that is much easier to understand than reading notes in a chart (Gerson et al., 2008).

A genogram can focus on various themes. Cultural and sexual genograms are two important types. Technically, genograms should always include information about a client’s cultural background, as it affects his or her daily behaviors; however, a basic genogram does not usually provide extensive details (Gerson et al., 2008). A person may belong to a culture by birth, marriage, or choice and these experiences shape a person’s beliefs and attitudes about life. All of these aspects can be included in a genogram to fully understand the client’s history (DeMaria et al., 1999). Cultural genograms can include information such as race, ethnicity, immigration, religion, and social class. Sexuality is also a factor in cultural genograms because it is viewed differently by various cultures. Sexual development can be influenced by family messages and behaviors, evolving throughout life based on experiences.

Similar to the standardization of human pedigree nomenclature, there are standard symbols for genograms (p. 136, Miller et al., 2006). Examples of genograms and common notations/symbols are noted below.

The following is an example of a pedigree/genogram composite including family communication patterns.

Brad and Jake are seen in genetics clinic regarding their daughter, Kim. She is currently 4 years old and has documented developmental delays in speech and language. Kim was referred for a genetics consultation due to dysmorphic features identified by a developmental pediatrician.

Brad and Jake have been married for five years. Their family consists of two children, Kim and Sam. Their four year old daughter, Kim, was adopted from China one year ago. Kim has two sisters who were placed in adoption and a brother, who lives with the parents in China. One of Kim’s sisters has no contact with her biological family. The second sister was reportedly abused and neglected while under the biological family’s care. The children are not known to have birth defects or health concerns.

For their second child, Jake and Brad used in vitro fertilization. Jake’s sister agreed to be the ovum donor, and Brad’s sperm was used to conceive Sam, who is now two years old. Both Brad and Jake’s parents are alive and well. Brad’s family is from Ireland. Jake’s family is from France. There is no known consanguinity.

While providing information for the pedigree, Brad and Jake revealed that Kim had been neglected and possibly abused while in China. They wonder if this oppressive early family environment contributed to Kim’s current developmental delays. The couple also revealed that Jake’s sister Jennifer did not approve of the surrogacy arrangement, creating hostility in the sibship.

 

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