Genomic resource centre

Gender and Genetics

Genetic Stigmatization

Both women and men who are identified as carriers of a recessive gene associated with disease, or who are affected by a genetic condition, may face a range of social and psychological consequences, including stigmatization by the community.

As one example, in some societies, giving birth to sons defines women’s status and rights as wives, daughters-in-law and mothers. (62) Women who carry an X linked disorder may face therefore face particular stigmatization because they have a 50% likelihood of having a son affected by the disorder. Some examples of such conditions are hemophilia (1:10,000 males) (63) and Duchenne Muscular Dystrophy (1:3500 males), (64) all of which are X-linked recessive chromosomal disorders that primarily affect males.

In addition, women may respond more acutely on learning of their carrier status because men may view carrier testing as related to reproduction and thus a female responsibility. (65) They may face stigma in some countries where there are low levels of education about genetics, and in which women are consequently blamed for producing children with genetic abnormalities. This stigma may be particularly acute in countries that favour male offspring, or countries such as China which limit reproduction to one child, if women produce a male child with an abnormality.

Finally, carrier status may also have social implications for individuals, particularly in countries where arranged marriage is practised. In these countries, carriers may face discrimination based on the knowledge that they are carriers and hence experience difficulty in finding a spouse.

Netherlands: Men and Genetic Stigmatization in BRCA1/BRCA2 Screening

Netherlands: Men and Genetic Stigmatization in BRCA1/BRCA2 Screening

Netherlands: Male Responses to Genetic Information in BRCA1/BRCA2 Screening
There may be gender differences between how men and women react to a identification of carrier status following genetic screening. The following case study highlights the fact that although male participants in a screening program for cancer susceptibility genes were concerned about the implications of testing for their offspring, the majority of the men in the study did not need psychological support. Rather, most men in the study regarded the repercussions of positive identification as distant and more significantly, felt that they were not to be blamed for the chance of having transmitted the mutation to their daughters. (66)
The psychological implications of genetic testing for males at risk of being carriers of mutations in BRCA1/BRCA2 have received little attention. Inheritance is autosomal dominant and offspring of female or male mutation carriers have a 50% chance of receiving the mutation. Males carriers of these mutations do not have a significantly increased risk of cancer although their daughters and granddaughters will have a lifetime risk of 56-80% for breast cancer and of 10-60% for ovarian cancer. (67)
Research indicates that some men try to cope with unfavourable genetic information through avoidance, by refraining from discussing the topic of hereditary cancer, (68) postponing or cancelling appointments for bloodsampling, (69) and failing to attend follow up interviews.(70) Lodder et al. reported on the psychological implications of genetic testing for 28 men at risk of having inherited a BRCA1/2 mutation and their partners. (71) Twelve of the men (30%) resigned from participating in the study. Although feelings of guilt towards the daughter at risk were explicitly stated by one mutation carrier, Lodder et al. reported that among those at risk of being identified as a mutation carrier, half of the men stated that a positive identification would have no consequences on their own emotional well-being. Lodder et al. proposed a twofold explanation for this result among male participants:
“Firstly, men might wish to ignore that their own problems would increase, because they feel that the consequences of being a mutation carrier are far more severe for their daughters. They might perceive themselves as irresponsible or weak if they admit having difficulty themselves. Secondly, most males did not seem to have experienced guilty feelings about the possibility of an increase of problems for their children.” (72)
The complexity of these feelings was verbalised by one of the male respondents: “I would feel very miserable about my daughter, if I have inherited the mutation. I would not say that I can be blamed for this, it is due to coincidence, but I find it difficult to accept that this gene comes from my body…I do feel guilty about this.” (73) Alternatively, it may have been the case that some men had difficulty in identifying feelings of discomfort in terms of guilt. (74)