Genetic Testing for Transgender People

young person with a transgender pride flag

Trans-Inclusive Genetic Counseling: You deserve gender-affirming genetics care.

As our society continues to grow in acceptance and understanding, increasing numbers of individuals are able to come out as transgender. According to the 2015 Transgender Survey, approximately 0.6% of the US population, about 1.4 million Americans, identifies as transgender.  Among young people, estimates are as high as 2%, although this is likely still an underestimate. While some attitudes toward transgender people are shifting, transphobia remains pervasive in our culture. This is especially true in health care, where trans people have often struggled to get the gender affirming care they need. Nearly a quarter of trans people say they avoid going to the doctor for fear of discrimination. Financial concerns are also a barrier for more than a third of openly trans folks in the United States.

Knowing about genetic risk factors can benefit individuals of any sex or gender but may be useful to trans people in some unique ways, such as surgical or hormone considerations. Genetic testing and genetic counseling can help inform transition care, appropriate medical screening options and medication selection.

Can Being Transgender Affect My Genetic Testing and Counseling Experience?

Sex and gender identity are two distinct concepts that can both be important in a genetic counseling session. Biological sex is a spectrum of physical characteristics including reproductive organs, hormones, body composition and chromosomes. Sex characteristics can be important in genetic counseling in several ways. For individuals whose sex assigned at birth differs from their gender, it can be helpful to discuss which reproductive organs and chromosomes a person has. This helps the genetic counselor to provide appropriate testing options. For example, some genetic conditions are carried on sex chromosomes. Knowing the sex assigned at birth of individuals in a family, particularly the sex chromosomes they carry, can help the genetic counselor assess how a condition might be passed from generation to generation.

Individuals of any gender can have a variety of sex characteristics. It can be important for genetic counseling and testing to discuss which organs someone does or does not have, regardless of their gender. For example, many transgender men have ovaries and transgender women may have prostates. The risk of cancer in either organ is higher for individuals with certain genetic changes in genes such as BRCA1 or BRCA2. Going through an organ list, rather than assuming organs based on gender, is an important step genetics providers should be taking to ensure appropriate care.

What are the Benefits of Genetic Testing for Transgender People?

Genetic testing can benefit anyone who is interested in learning about their genetics. Some benefits include:

  • Understanding your personal risk for cancer, cardiovascular disease or other heritable conditions
  • Personalized health screening and prevention options
  • Anticipating health risks for future generations and family planning
  • Diagnosing rare hereditary conditions

Genetic testing for transgender individuals can have some unique benefits. For example, cancer genetic testing may play a role in decision-making around gender affirming surgeries. Trans men with a known cancer risk mutation in a gene like BRCA1 may opt for a full bilateral mastectomy, rather than a “top surgery” which leaves more breast tissue in place. They may also consider having their ovaries removed, which isn’t typically part of gender affirming surgeries. Trans women with a genetically increased risk to develop cancer may similarly opt to have their prostates surgically removed. They may also decide to undergo surgical enhancement of their breasts rather than hormonal breast enhancement, as their natural breast tissue would have an increased likelihood of developing into cancer. Genetic testing can help trans folks to better understand their cancer risk and make surgical choices accordingly.

There are also common cardiovascular conditions that may impact hormone-related care. Familial hypercholesterolemia (FH) is a common form of inherited high cholesterol that affects about 1 of every 14 people. Some studies have shown that sex hormone therapy in trans men may increase circulating low-density lipoprotein cholesterol (“bad cholesterol”) and decrease high-density lipoprotein cholesterol (“good cholesterol”). A recent case study described a trans man with high cholesterol after he started taking testosterone. Typical statin therapy was unable to lower his bad cholesterol levels. He underwent genetic testing and was found to have FH. By identifying that he had FH, his doctors were able to use a different medication to control his high cholesterol. This allowed him to stay on testosterone. More research needs to be done on the effects of sex hormone therapy, but genetic testing may help trans people keep their hearts healthy, while also avoiding the unacceptably high risks of gender dysphoria that may come with stopping hormone therapy.

Not all trans people physically transition. Some may face barriers to access, while others do not feel that physical transition is necessary for them. Regardless of physical transition status, the stigma and oppression trans people face can have a major impact on mental health. Nearly 40% of trans people have attempted suicide in their lifetimes. Ultimately, we all need to work to change negative societal views of trans folks and erase systemic inequality in health care, employment and housing. While this work is in progress, some trans folks may benefit from mental health services and medications. Pharmacogenetic testing is a type of genetic testing that can help predict how the body processes medications. This testing can be especially useful when it comes to selecting the right medication for anxiety and depression. Pharmacogenetic testing can help shorten the often frustrating journey to finding the right medication to improve mental well-being.

Schedule Your Genetic Counseling Session to Learn About Testing Options

Because genetic testing can be so important in trans health care, Genome Medical and the genetics community at large are continually working towards inclusive genetics care for transgender patients. We use gender expansive registration forms and provide genetic test recommendations based on organs — rather than gender — to ensure trans appropriate care. Schedule your genetic counseling appointment at Genome Medical to learn more about testing options. (link to scheduling). 

Other helpful blog posts: