Genograms

Health Applications

Whereas genograms are designed to indicate intergenerational relational patterns, new developments resulting from the Human Genome Project have led health professionals to develop family tree models that reflect transmissions of genetic diseases.

The Human Genome Project, completed in 2003, opened the door to an extraordinary wealth of genetic information and subsequent research will serve to uncover increasing numbers of markers for genetic disorders. As a result of this scientific breakthrough, more families will be faced with an exceptionally delicate task: how to communicate with other members about their genetic heritage when one member becomes symptomatic or when markers could be identified or are identified in certain members. The following issues will significantly influence the interactions of countless families: identifying who may be at risk for a variety of inherited conditions; deciding whether to reveal this genetic history to other family members; deciding how to inform other members that they or their offspring may be at risk; interacting with one another after some members have chosen testing while others have not; supporting members painfully affected by their genetic knowledge. Conversations that would have been unthinkable a decade ago may be vital to managing family health in the future.

Multiple factors affect familial talk regarding genetic health information; these include relational histories, family structures, roles, gender, communication rules, the nature of the disorder and cultural patterns. Whereas information tends to be passed to first-degree relatives and to emotionally connected relatives, distant relatives may be informed in a more haphazard and less timely manner. Relational conflicts or lack of contact between members can inhibit, if not block, the transmission of genetic information. Families that experience structural variations such as divorce, step-relationships, or adoption, engage in less genetically-linked disclosures. Parents are viewed as having the primary responsibility for passing information to their offspring, thus limiting the use of family networks. For example, relatives such as aunts and uncles report frustrations when their siblings forbid them to pass genetic information on to nieces or nephews. Gender can also impact familial disclosure as women are often viewed as "gatekeepers of genetic knowledge" and as links to relatives in the previous generations. Females are also more likely than males to share such information. Family communication rules often dictate who talks to whom about certain topics or what networks are used to relay critical family information. When genetic conditions are family secrets, such rules prevent critical revelation.

Other barriers to disclosure include: a desire not to alarm other family members and geographic distance of members and marital state of the affected person. It is more likely that news about a preventable, manageable or reversible disorder will be shared than news about a disease perceived to be highly devastating or deadly. Many of these factors depend on social construction of family and kinship that are embedded in cultural norms. The actions of the proband, the first person in the family diagnosed with the disease affects the transmission of information regarding the disease. The proband’s specific information on the health risks to other members and his or her understanding of the nature of the disease also affects disclosure and the impact of the message on other members. Upon receiving the news, the proband’s response influences if, when, and how other members learn about their potential risk.

For persons interested in family and/or genetic counseling, the CEGRM, or colored eco-genetic relationship map, (Kenen & Peters, 2001) provides a springboard to considering how the genogram interpersonal relational emphasis could be paired with this map of relational genetic connections. The CEGRM serves as a tool for presenting information about family and even non-kin relationships and stories about inherited diseases. The original purpose of the CEGRM was to help genetic counselors work with clients to understand the client’s perception of how three types of resources function: symbols (information, ideas, values and messages mainly related to genetic information), material (services and finances) and emotions (feelings about inherited disease and risk, approval, love, respect). Exchange interactions may be reciprocal or non-reciprocal (initiated by client). Key social network players include Gatherers, who collect genetic information, Disseminators, who distribute information and Blockers who create barriers to the transmission of information. Persons may take more than one role. Resources, exchange patterns and social network players are represented by different colored symbols so a trained person can recognize quickly the patterns in which clients find themselves.

The CEGRM codes are ideally done in color though variations of black and gray can be used if necessary. For example, these codes are often developed on large flip chart pages or on poster board. Some of the symbols are colored stars or dots that may be applied as the client answers questions. Because this is a relatively new instrument, there are variations in the content and the code.

Versions of the codes include:

Social Network Players
Gatherers - Yellow Star
Disseminators - Green Star
Blockers - Red Star

Resource Areas: Types of Support
Information - Blue Circle
Material Services - Green Circle
Emotional - Yellow Circle
Spiritual - Purple Circle

Non-Family Supports
Friends - Yellow Oval
Colleagues/Co-Workers - Green Oval
*These people may be noted as gatherers, disseminators, or blockers.

Application: Hereditary Hemochromatosis

As you might imagine, there are many variations in family roles and supports as an individual is confronted with a hereditary disease. Using hereditary hemochromatosis as an example, we can build a version of a Geno-CEGRM that reflects family dynamics and specific medical realities.

Case:

After 4 years of many different diagnoses, 52-year-old Michael Murphy has been definitively diagnosed with hereditary hemochromatosis. HH is an autosomal, recessive disorder of iron metabolism that results in an over-abundance of iron in the tissues. Simply put, hemochromatosis occurs when the body absorbs too much iron from foods (and other sources such as vitamins containing iron). This disease causes extra iron to gradually build up in the body’s tissues and organs, a term called iron overload. If this iron buildup is untreated, it can, over many years, damage the body’s organs. Because the symptoms are vague and diffuse (fatigue, weight loss, joint pain, weakness, abdominal pain), it may take years before the disease is accurately diagnosed. If not diagnosed, the later stages of the disease may include cirrhosis, liver cancer, arthritis and heart problems. There is no medicine for the disease; the treatment involves phlebotomies that can manage the disease.

The disease usually presents in middle age and the progression varies. If hemochromatosis is detected early, treatment can slow its progress and prevent serious problems. A patient’s biological siblings possess a 25 percent chance of having the disease; their children only have a 5 percent chance. Therefore it becomes critical that the first person diagnosed (called the proband) inform his or her siblings about the disease and their possible risk so they can be tested. Sometimes this process is much more complicated than expected. Individuals may resist telling others about their diagnosis for reason such as concern for loss of insurance, worries about upsetting relatives, lack of contact with relatives, relational conflicts, gender, communication rules, the nature of the disorder and cultural norms.

Look at the following combined section of a genogram and a CEGRM to see how certain issues might be represented:

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Looking at Mike’s family, you can tell that his wife, Karen, is a major support who both gathers and disseminates information about hemochromatosis. This role is not surprising because women are more likely than men to be the family messengers regarding health concerns, including genetic diseases; in some cases women talk to other women in order to get male relatives to get tested. In this case, Karen is close to her sister-in-law Elise and, since Sean has not gotten tested, Elise has started to nag him about it. On the other hand, James has evidenced little interest in testing and his new wife, Lilly, is an outsider in the family because they married after he had an affair with her. There is limited contact between the couple and other family members. Kate, who was adopted when Tom and Ann thought she would not be pregnant again, has no biological tie to the family, which implies she does not have to worry about the disease. Nevertheless, her presence at family events leads people to avoid discussing the subject because it would serve as a reminder that she is not a biological relative. Julie and her partner Meg live at a significant geographic distance due partly to family discomfort with their lifestyle. Although Mike has announced his diagnosis to her and suggested in an e-mail that she get tested, neither has ever raised the subject since then.

Mike has told his children and Karen reminds them to be aware of symptoms, but they are not likely to show signs of the disease for many years, if ever. The background of Tom, who died three years ago of cirrhosis, has come under re-consideration. Although he was an active drinker, he did not appear to be an alcoholic. Yet, when he was dying of cirrhosis, Ann became very angry and she and some of the children blamed him for killing himself by drinking. Now the family wonders if he had undiagnosed hemochromatosis. Ann does not wish to know more about the disease and blocks any discussion when there are family events because it may threaten her children. Ann’s actions anger Karen in particular, who believes her mother-in-law should take the lead in getting her children tested. The family represents an Irish heritage, which is consistent with the ethnicity of many hemochromatosis patients; Irish family communication patterns of serious and//or personal topics tend to be limited and guarded.

Many of the genogram clues may contribute to an understanding of a client’s familial world. For example, recognizing the extent to which gender impacts the transmission of information, other family losses that impact their ability to cope, the rules about family boundaries and the openness of health discussions can add further depth to the map.