September is Sickle Cell Awareness Month, so we wanted to share a bit about our efforts to bridge the knowledge gap about the condition through a collaboration with Dr. Lametra Scott and the non-profit Breaking the SSickle Cell Cycle Foundation (BTSSCC).
Over the last few months, Dr. Scott, CEO, and co-founder of BTSSCC, has worked with 23andMe as part of a sickle cell awareness campaign to increase access to sickle cell trait information, promote sickle cell disease awareness, and offer resources for individuals with sickle cell trait and sickle cell disease (SCD). Sickle cell disease is a group of inherited blood disorders. Similar to the sickle cell trait, sickle cell disease disproportionately affects, among other groups, people with African ancestry.
The sickle cell awareness campaign offers an opportunity for individuals to learn more about their ancestral heritage and access 65+
health reports and features, including additional reports on conditions that disproportionately affect people of African ancestry, such as APOL1-related chronic kidney disease and glucose-6-phosphate dehydrogenase deficiency.*
Many people don’t know that sickle cell disease is an inherited condition caused by variants in the HBB gene. People who carry one copy of the HbS variant in the HBB gene have sickle cell trait. People with sickle cell trait don’t typically experience any symptoms unless under extreme conditions. However, their children could be at risk of inheriting sickle cell disease if their partner also carries a variant in the HBB gene. In particular, if both parents have the HbS variant, the children are at risk of inheriting the form of sickle cell disease known as sickle cell anemia.
23andMe, which offers a Sickle Cell Anemia Carrier Status Report*, is uniquely positioned to help individuals learn more about their carrier status through the report. In addition, the report offers opportunities to learn more about the potential risks of sickle cell anemia. 23andMe is collaborating with BTSSCC on a Sickle Cell Carrier Status Awareness Program that offers free 23andMe Health + Ancestry kits to participants and provides education and counseling services for those interested through BTSSCC. Program participants may consent to participate in 23andMe’s Research program, but this is not required for the program. In related work, the team is collaborating with researchers at the NHGRI and Johns Hopkins University to study sickle cell trait and potentially associated conditions.
Worldwide about 300 million people have sickle cell trait. About one in 13 Black or African American babies is born with sickle cell trait in the US alone, and about one in every 365 is born with sickle cell disease.
Although there are promising developments in gene therapy to cure sickle cell disease and new treatment medications, the disease still plagues about 100,000 Americans. The condition is associated with increased stroke risk and often leads to debilitating pain and organ failure. Knowing whether you have sickle cell trait is important for anyone planning to have children.
This is personal for Dr. Scott, who learned she was a carrier only after becoming pregnant with her son Rickey. A pharmacist who studied biology at the University of Memphis and then received her doctor of pharmacy degree at the University of Tennessee Health Science Center, Dr. Scott said the challenge wasn’t just the lack of screening or information from doctors during her pregnancy, but the lack of training in general for people in the medical profession that prompted her to take action.
She founded BTSSCC in 2015 after Rickey’s birth. She’d learned she was a carrier about 15 weeks into the pregnancy. After her son’s birth, Dr. Scott was told Rickey was only a carrier. But that was wrong. It turned out Rickey had sickle cell anemia. The combination of the lack of information, along with the lack of training and inconsistent treatment, prompted Dr. Scott to create BTSSCC. The focus of the non-profit is to bridge the SCD knowledge gap and to encourage people at risk to get tested for sickle cell trait and have conversations with their families and healthcare providers.
Dr. Scott recently sat down with us and talked about her work and some common misunderstandings about sickle cell disease. Below is some of that conversation edited and condensed in places in the interest of brevity.
You didn’t learn that you were a carrier until you became pregnant. Do you think that’s a common experience?
Yes, very much so. It’s all rooted in the fact that many people don’t know their status. They don’t know whether they are carriers of the sickle cell trait until they have a child. That’s pretty much when they find out. Even though all 50 states now include sickle cell in the newborn screening panel.
That wasn’t always standard. New York was the first state to implement newborn screening for sickle cell disease in 1975; by 2006, universal newborn screening for sickle cell disease was in place across all 50 states.
The issue is that even when a baby tests positive for the trait, it’s up to the individual state health departments to follow up with those families. There isn’t always good follow through on that, and then often a child or their family forgets about (the significance of being a carrier), and the cycle can begin again when they have children.
Testing and screening often don’t happen until someone is pregnant. I found out only after I was 15 weeks pregnant, and I had my son in my mid-30s.
A lot of your work is around simply educating people about the condition. What are some of the questions you hear the most from people wanting to learn more?
We’re doing outreach on a lot of topics, including making sure people understand that sickle cell is relevant not just to African Americans but people of all ethnic groups, particularly groups with roots in geographies where malaria is endemic. So, that includes the Middle East, the Mediterranean, the Caribbean, Central, and South America, and South Asia.
The sickle cell trait was an evolutionary adaptation that helped people survive malaria, but it becomes detrimental when two people with the trait have a child, and that child develops sickle cell disease. Part of educating people is dispelling myths, because those myths filter into the healthcare system. A non-African American with sickle cell disease or caregiver to a child with symptoms might show up in an emergency room with symptoms, but because they are not African American, it’s assumed they wouldn’t have sickle cell disease and are often denied appropriate care.
We also get a lot of questions from people with sickle cell disease who need help navigating the system. There are not a lot of medical professionals who are knowledgeable about sickle cell disease or the sickle cell trait. So some of our most common discussions aren’t questions, but patients who’re frustrated that they’re not getting the care they need. This is because medical professionals may not understand sickle cell disease. We have people who go to the emergency room in excruciating pain who might wait 10 to 12 hours and aren’t triaged quickly. Or once they get in to see someone, instead of being given a narcotic or opioid to treat their pain, they’re labeled as a “drug seeker.”
Why is there this big gap in understanding?
Some of it is the lack of training. In the ten years of medical education, you might get 15 minutes focused on sickle cell unless you specialize in hematology. And then there’s the issue of money or lack of money associated with research funding sickle cell disease treatments.
But I think you can’t talk about any of that without addressing racial issues and healthcare disparities that impact the African American and minority communities.
You have personal experience with being a carrier and caring for someone with sickle cell disease. How difficult was it to find a clinician specializing in treating sickle cell?
Well, that’s a loaded question. It depends on where you live. Luckily for me, there is a center for excellence (a clinic specializing in treating sickle cell) nearby.
For me, it wasn’t hard to find care for our son, but for someone in a rural area, it can be very challenging. There are not a lot of specialists in those areas or providers who are knowledgeable about sickle cell.
(Editor’s note: There are about 50 centers that treat sickle cell across the country. About two dozen facilities treat adult sickle cell patients, about 20 that treat pediatric sickle cell patients, and just 16 that do whole-life care for sickle cell patients. For comparison there are 130 treatment centers for cystic fibrosis, a rare disease that mostly impacts people of European descent with about half as many people as sickle cell disease. )
What are some programs you and BTSSCC have supported to increase the number of healthcare professionals with expertise in sickle cell disease?
So in that regard, we’ve started working with pharmacists. We chose to work with them first because they provide healthcare to all patients, and there are retail pharmacies in every community. In addition, patients depend on pharmacists for medication to manage their disease state. They have the opportunity to develop relationships with those patients and be their advocates. If a patient is going to the pharmacy more frequently or experiencing more episodes, they may need adjustments to their medication, and the pharmacists can pick up the phone and speak with their doctor about the concerns and be their advocate.
There are some promising treatments for sickle cell disease, particularly new types of gene therapy. What is most exciting to you about these recent breakthroughs?
The biggest thing is that since 2017 there are now three new medications used to treat sickle cell. This is phenomenal, but the downside of these medications is that they’re very, very expensive — $70,000 to $100,000 a month. Even though they do well to help manage the disease state, decrease pain episodes and help to prevent organ damage, which means fewer trips to the ER and thus less cost to the healthcare system; patients often encounter barriers from insurance to pay for this medication.
Before 2017, there was just one therapeutic option for treatment; hydroxyurea, which was FDA approved for treating adults with sickle cell disease in 1998 and children in 2017. It was first developed as an anticancer drug and has been used to treat myeloproliferative syndromes-leukemia, melanoma, and ovarian cancer. Its main benefit is to essentially increase hemoglobin F, which in turn helps make red blood cells bigger and less prone to sickling. It’s done wonders and prolonged people’s lives, but it’s not a cure-all. It doesn’t treat acute pain episodes, and it doesn’t work well with all genotypes. If a person didn’t respond to it, they were previously left with narcotics for pain or blood transfusions.
But since 2017, three new medications have become available: L-glutamine, voxelotor, and crizanlizumab. They are each disease-modifying drugs, and they’ve advanced care for those with sickle cell by leaps and bounds from where it was 30 years ago.
Beyond that, gene therapy is very promising. If it works like we think it will based on clinical trials, it will be a game changer.
Talk a bit about the collaboration with 23andMe. Part of the motivation for 23andMe’s Sickle Cell Carrier Status Awareness Program is to increase awareness by giving participants access to their sickle cell carrier status information. Why is that so important from your point of view?
I see this as an opportunity to remove a barrier to screening. Typically, young adults don’t get tested, but if you can target people in the family planning years between the age of 18 and 45, there’s more of a chance to know if you are a carrier before you decide to have children. It’s best to have that information before one begins the family planning process so you are not blindsided and you have options.
Participants in this program can also participate in research, but can you discuss the importance of having more diversity in genetic research, particularly around sickle cell disease?
Yes, it is important and when I talk to patients, they want to have the option to choose whether or not to participate in research. They like the idea of learning more about their carrier status for the sickle cell trait, and they like having access to 23andMe’s other health reports. But when you look at the history of African Americans and other minorities and clinical research, it’s a touchy subject. They don’t want to feel lied to or manipulated. It’s not that they don’t want to participate but they want the autonomy to choose to participate or opt out the entire way through the process and know that they have a voice in what happens with their information. And that’s what 23andMe does.
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**The 23andMe PGS test uses qualitative genotyping to detect select clinically relevant variants in the genomic DNA of adults for the purpose of reporting carrier status and reporting and interpreting genetic health risks. The relevance of each report may vary based on ethnicity. Our carrier status reports can be used to determine carrier status, but cannot determine if you have two copies of any genetic variant. These carrier reports are not intended to tell you anything about your risk for developing a disease in the future or anything about the health of your fetus, or your newborn child’s risk of developing a particular disease later in life. For certain conditions, we provide a single report that includes information on both carrier status and genetic health risk. For important information and limitations regarding other genetic health risk reports and carrier status reports, click here.