Resources/Referral/Follow Up

Working with Consanguineous Couples

Attitudes of medical professionals towards consanguinity are often negative, apparently based in health concerns (Shiloh et al., 1995). However, as the health ramifications of consanguinity have been proven to be less than expected, much of this negative attitude may be due to cultural differences.

Although many Western cultures hold negative attitudes about consanguineous unions and some have even legally restricted these unions, consanguineous unions are customary and even preferred in some populations. This includes the Middle East and South Asia (which includes Pakistan, India, Bangladesh and Sri Lanka), along with other smaller communities, some even within the United States. It is estimated that at least 20% of the world’s population has a culturally-grounded preference for consanguineous unions, and that at least 8.5% of all children have consanguineous parents (Modell and Darr, 2002). In communities that prefer consanguineous marriage, rates of these unions may be as high as 50-70%, and due to the genetic implications, up to 85% of couples from these communities who seek genetic counseling may be consanguineous (Modell and Darr, 2002; Fathzadeh et al., 2008).

From a cultural perspective, there are many perceived advantages to consanguineous marriage. Many individuals from cultures without preferences towards consanguineous unions erroneously assume that these unions are rooted in religious and economic reasons (Hussain, 1999). Instead, individuals from cultures with preferences for consanguineous unions may believe that these unions are the best opportunity for a compatible marriage between husband and wife, since the parties are well known to their families. This practice helps preserve the power of the wife with her husband’s family, as brides unknown to the family may be more highly scrutinized throughout the marriage (Hussain, 1999).

From a genetic perspective, consanguineous marriage increases the chances that both members of the union will carry recessive variants being passed through the family, which increases the chance that their offspring will be affected by a recessive disease (Modell and Darr, 2002). Although the western health care focus of public health campaigns may be to actively discourage consanguineous unions based on these health concerns, the cultural benefits of consanguineous unions decrease the likelihood that these campaigns will actually dissuade such unions. Instead, the campaigns may ultimately lead to stigmatization of consanguineous couples and decrease the likelihood that couples will receive appropriate genetic services, due to underutilization of available services and inappropriate risk estimation. For example, due to the perceived stigma in the genetics community against consanguinity, families may underreport complex consanguinity to minimize disapproval (Shaw and Hurst, 2008).

Additionally, in a public health model that stigmatizes consanguineous couples on the basis of genetic factors, couples may not seek out preventative care. The only contact couples may have with geneticists and genetic counselors is when a child is born with an intellectual or physical disability. These couples may be told that the disability was caused by their consanguinity (Modell and Darr, 2002). Whether or not consanguinity is the actual medical reason for the disability, couples often feel blamed by the geneticist or the genetic counselor, increasing the perception that consanguineous couples produce genetically unfit children.

The NSGC published recommended practice guidelines on appropriate care for premarital, prenatal and pediatric care for consanguineous couples (Bennett et al., 2002), recently revisited (Bennett et al., 2020). The approach of the NSGC is consistent with statements released by the WHO, which discourage blanket recommendations against consanguineous unions and instead recommend tailoring genetic counseling to each couple, by focusing on recessive variants known to be in the family.

Since this is an international study, there may be a variety of target groups, as well as numerous institutional review board policies and procedures. When working with his institution’s IRB office, Shawn will be asked to explain how he will inform patients that they are being asked to participate in the study because there is a higher rate of consanguinity among members of their specific ethnic group. Shawn will need to formulate the exact language he plans to use, orally and in writing, to explain why they are part of his target population.

When working with consanguineous couples or children of consanguineous unions, it is important for the genetic counselor to avoid implying negative personal perspectives. When drawing the pedigree of the family, the counselor is responsible for appropriately documenting the consanguineous union, the terminology used to denote how the couple is related, and calculating the coefficient of inbreeding (covered in the NSGC consensus statement on working with consanguineous couples). A counselor’s hesitations and/or inadequate skills can make clients feel different or unusual. Being able to draw and interpret complex pedigrees as adeptly as simple pedigrees makes all clients feel more comfortable.

Exercise:

Consider how often and adeptly you draw consanguineous pedigrees. If you stumble or take too long, increase your familiarity and speed by practicing. Try drawing a particularly challenging pedigree, perhaps involving consanguinity, such as for double first cousins.

Although asking about ethnicity and consanguinity is a routine component of taking a family history, the order and manner in which the genetic counselor broaches these questions can be important. Instead of asking about ethnicity and then asking about consanguinity, ask about consanguinity first. That way the client does not feel as if the only reason you are asking is because he/she disclosed an ethnicity that is related to higher rates of consanguinity. When asking about consanguinity, the more matter-of-factly you ask, the better. Instead of asking “Is there any chance that you and your partner may be related?” and then explaining this is a routine question (as you might be inclined to say with a European-American couple), it is preferable to ask “Are you and your partner related in any way?”. This manner of questioning normalizes the union, instead of potentially making the client feel that the union is “different.”

Additionally, couples of consanguineous unions may be from cultures that are defined by a patriarchal hierarchy. As these cultures emphasize the strength of paternal ties over maternal ties, some individuals from these cultures may discount family history from the mother’s side of the family, believing that it does not strongly influence them (Shaw and Hurst, 2008). Therefore, it is important for Shawn to ask specifically about maternal family members.

Individuals in consanguineous families may be more reluctant to discuss genetic diagnoses or other problems that seem to ‘run in the family.’ A genetic diagnosis can be stigmatizing for the individual, as well as having ramifications for the whole family. A genetic diagnosis may adversely affect other family members’ marriages or marriage prospects (Shaw and Hurst, 2008). Shawn must also consider whether and how results from gene hunting studies will be shared with each participant. The results may carry multiple layers of significance for members of a consanguineous family.

 

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