by Amen Galinato, AsAmNews Intern
When Grace Li described her daughter Lily’s neurodevelopmental disorders to her Chinese relatives, she struggled to find the words that didn’t demean her daughter’s differences.
“They’re generally about someone having low power or intelligence and those are the standard terms, you know,” she said in an interview with AsAmNews.
It wasn’t until Lily was five years old and diagnosed with autism that Li and her husband found an explanation for her daughter’s delays. Lily had Phelan-McDermid syndrome (PMS), a rare genetic disorder that occurs due to pathogenic changes to the SHANK3 gene.
“She still loves music and dance,” she added. “I try to describe her [as] more than her ability.”
Across the world, people with disabilities continue to face stigma and numerous challenges. While recent efforts have been made to promote inclusivity and accessibility, significant barriers remain—particularly in many Asian cultures, where disability is still a sensitive and often stigmatized topic.
“She still loves music and dance,” she added. “I try to describe her [as] more than her ability.”
As a Chinese American and a director on the board of research advocacy organization CureSHANK, Li has helped push for genetic testing, a tool that seeks to help families identify genetic conditions in their children.
After noticing delays in her daughter, Li voiced her concerns to doctors but was often dismissed. She recalled feeling like the cultural stereotype of “tiger parent” caused doctors to overlook Lily’s condition.
“They thought I was overly concerned about her not meeting her milestone. So I got a lot of wait and see,” she said.
Although Li feared she might be seen as overly anxious, she knew her daughter needed help.
“If Asian Americans are not aware of it or [other] first time parents aren’t aware of it, but if you’re really not aware of it and culturally you have not been thinking about it, I think then the barrier to advocating for and getting genetic testing is even higher,” she said.
Li described genetic testing as a way to help supplement information given by doctors and bring greater attention to underlying issues.
“If you do have a genetic cause for your issue, then at least there is more information, at least there is specialized information for, you know, the condition that your family member has,” she added. “I think that is very helpful and it helps doctors to take you more seriously.”
Geraldine Bliss, President and Co-Founder of CureSHANK, told AsAmNews about how genetic testing could be used to decrease the stigma around disability.
“I believe knowledge is power, and that by giving people that knowledge, that it’s going to help counteract any preconceived notions of what they thought a genetic condition was previously,” she added. “Today we’re entering this sort of precision medicine era where there are very good medications that exist and more that are being developed that can only be prescribed if you have a specific genetic diagnosis.”
While genetic testing has been shown to help screen for possible conditions, there are associated risks. Although the tests carry few physical risks, the National Human Genome Research Institute notes that some individuals may experience emotional and financial drawbacks. A diagnosis can cause anxiety or grief, and processing the results can take anywhere from five to seven weeks.
“If you do have a genetic cause for your issue, then at least there is more information, at least there is specialized information for, you know, the condition that your family member has,” she added. “I think that is very helpful and it helps doctors to take you more seriously.”
In Li’s case, genetic testing was covered by insurance, but this is not always true for other families. According to PreventionGenetics, a leading clinical DNA testing laboratory, the listed price for genetic testing is $1,790.
There are also limitations to what genetic testing can reveal. The Institute notes that it often cannot determine whether a person will show symptoms of a disorder, how severe those symptoms might be, or whether the condition will progress over time.
Bliss pointed out that accessibility to genetic testing often depends heavily on a family’s healthcare situation.
“Sometimes the barrier is the healthcare provider. And then I think the other main category we hear about is lack of access,” she added. “That can mean a family’s insurance doesn’t cover it, or Medicaid doesn’t.”
According to MedlinePlus, most states do cover genetic testing, but coverage varies based on an individual’s specific insurance plan.
Bliss also noted other barriers that can block access.
“The problem tends to be for families whose employer has what’s called a self-insured plan. In that case, the employer can exclude certain things,” she explained.
She emphasized the importance of advocating for legislation that improves accessibility.
“Sometimes the issue is just that families might have a very high co-insurance, deductible, or co-pay, which makes it hard to afford the testing,” she continued. “There are definitely financial barriers, and I think it really underscores the importance of advocating for policies that ensure as many people as possible can access genetic testing when needed.”
Although Li is grateful for the insights genetic testing has provided, she acknowledged there are still challenges ahead. She hopes her daughter won’t be defined or limited by a neurodivergent label.
“I didn’t want people to sort of immediately look at her and only see her diagnosis, which I think may be a little bit enhanced in Asian cultures, but I think exists everywhere,” she added. “She is the person she is regardless of her diagnosis.”
On July 25, CureSHANK launched a movement about genetic testing called Start Genetic in the hopes of helping families understand their children more.
More information around genetic testing can be found on their website: