Planning a family can open a lot of emotions for couples. There are many factors to consider when planning for a child, but have you considered genetic testing? Genetic counseling and testing are vital keystones. Nowhere is this more evident than in the Black community, where a proactive approach to understanding genetic risks plays a significant role in promoting healthy pregnancies and the birth of thriving children. While the importance of genetic counseling and testing transcends racial and ethnic boundaries, the Black community faces unique challenges that demand a focused and sensitive approach, and with today’s advanced gene testing technology, women and their partners can find out if they are carriers for any one of hundreds of genetic disorders.
“Genetic counseling and testing are powerful tools in preconception and prenatal care. They allow individuals to assess their risk of carrying or passing on genetic conditions. In the Black community, this knowledge can be invaluable, given the higher prevalence of certain hereditary disorders.”
dr. hanna helber, certified genetic counselor of Texas Children’s Hospital Hematology Center
Genetic counseling and testing empower individuals and couples to make informed decisions about family planning. These tools can identify potential genetic disorders and hereditary conditions that may be passed on to offspring. One such condition is sickle cell disease, a genetic blood disorder that can cause severe pain, organ damage, and lifelong complications. It predominantly affects people of African, African American, and Afro-Caribbean descent.
What is a genotype?
A genotype refers to the inherited genetic composition of an organism, which can be passed down from one generation to the next. There are different types of genotypes, with the three major groups being AA, AS, and SS.
In this context, AA represents a normal genotype, AS indicates that an individual is a carrier, and SS signifies that a person has sickle cell disease. When it comes to choosing a partner for reproduction, the safest choice is for individuals with an AA genotype. They can partner with someone of any genotype. However, for those with other genotypes, particularly AS or SS, it is advisable to select a partner with an AA genotype if they intend to have children. This helps reduce the risk of passing on genetic conditions like sickle cell disease to their offspring.
A CNN report shows that learning about a person’s genotype is an essential “first date” question in many parts of the world, including Nigeria, which has the largest population of individuals with sickle cell disease globally. With Houston being the home to a large population of Nigerians, learning about genotype compatibility is expected to be had before entering into a serious, committed relationship.
Sickle cell disease is a genetic condition that affects the shape and function of red blood cells. It can lead to severe pain, anemia, and a range of health complications. This condition is particularly challenging because it is inherited through a recessive genetic trait. This means both parents must carry the sickle cell gene for their child to develop the disease. Approximately 70 babies per year in the Greater Houston area are born with the painful genetic disorder called sickle cell disease, more than in any other region of Texas. Of the estimated 100,000 Americans living with the rare condition, approximately 7,000 are Texans.
Houston-based fashion designer Kisa Williams lives with sickle cell anemia. Both of her parents, before their passing, had the sickle cell trait. Her oldest sister died of the disease at the age of 32. Williams was born in 1971; during that time, her parents weren’t informed about genetic testing.
“Back then, there wasn’t a thought about testing. It wasn’t available back then,” she said. “My sister was diagnosed at five years old. They [Doctors] didn’t know what she had. She had multiple procedures, and at one point, they thought it was leukemia. My sister made the decision that she wasn’t going to have kids because of it.”
The experience shaped Williams’ perspective on family planning. Even though she doesn’t have children, she knew if she did, she would be well prepared to care for them just as she did from observing her sister’s experience.
Expert Insights: The Role of Genetic Counselors
Dr. Hanna Helber, certified genetic counselor of Texas Children’s Hospital Hematology Center, underscores the significance of this awareness. “Genetic counseling and testing are powerful tools in preconception and prenatal care,” she said. “They allow individuals to assess their risk of carrying or passing on genetic conditions. In the Black community, this knowledge can be invaluable, given the higher prevalence of certain hereditary disorders.”
Dr. Helber points out that sickle cell disease, a common hereditary condition in the Black community, is just one example. “By undergoing genetic testing, couples can determine their carrier status for sickle cell disease and other conditions, and subsequently make informed choices that can minimize the risk of these disorders affecting their children.”
If an individual and their partner choose to be assessed, Dr. Helber said there are some things to expect during your visit to the doctor.
“We will talk about their family medical history and health conditions to help us identify any trends with inheritable diseases that could run in your family,” she said. “We walk them through the implications from a medical perspective and what genetic tests are available to determine the baby’s risks.”
Challenges and Opportunities
According to research from the National Institutes of Health, While the importance of genetic counseling and testing in the Black community is clear, there are still hurdles to overcome. These hurdles include:
- Limited Awareness: Many individuals remain unaware of genetic counseling and testing, while others may harbor misconceptions about the process. Raising awareness is a crucial first step.
- Stigma and Fear: Some individuals fear the implications of testing or the stigmatization associated with certain conditions. Overcoming these fears requires sensitivity and culturally competent counseling.
- Access to Services: Access to genetic counseling and testing can be challenging for some communities, particularly those with limited healthcare resources. Addressing these disparities is a priority.
- Cultural Competency: Ensuring that genetic counseling is culturally sensitive and tailored to the needs of the Black community is essential. This includes addressing cultural beliefs and concerns surrounding genetics and health.
Williams said with the help of new medication, she hasn’t been in the hospital for a crisis in seven years. Before taking the medication, she was in the hospital three to four times a year. The medication wasn’t available when her sister was alive, so access to services from her healthcare provider helped her to live a healthy, productive life.
“My life has changed. I still have avascular necrosis, which causes the joints between my bones to deteriorate from lack of oxygen and blood, so I’ve had both my hips and kneecaps replaced,” she said. “I still have side effects from the disease, but as far as being in the hospital, it has significantly reduced.”
Now, as the owner of Kisa Kisa, she shares her story by creating her bold, vibrant-colored handbags. Each bag is created in a distinctive half-circle resembling the sickle-shaped blood cells of the disorder, and when it opens, it opens to a full circle like a healthy blood cell. She went back to school in her mid-40s to take her fashion hobby to another level, and when she entered the scene in 2016, she never looked. Life may have not been easy, but she hopes to share advice to Black couples considering having children.
“Consider all of your options, have the conversations early, do your research, and get tested,” she said. “You’ll be more prepared for the crucial steps you’ll take when it comes to that point.”
