Category Archives: sickle cell disease

30Nov / 2023

Newborn screening ‘ecosystem’ continues to improve

Maurizio Scarpa, MD, PhD, director of the Regional Coordinating Center for Rare Diseases of the European Reference Network for Hereditary Metabolic Diseases at Udine University Hospital in Udine, Italy, stands at the podium.

By Melanie Padgett Powers, writer

Newborn screening is known primarily as the heel stick a newborn gets to test their blood for certain genetic diseases. But that simple description understates the profound effect newborn screening has had on families, as public health celebrates 60 years since the beginning of routine newborn screening in the US.

“Newborn screening is one of the major achievements in the history of medicine, in public health,” said Maurizio Scarpa, MD, PhD, director of the Regional Coordinating Center for Rare Diseases of the European Reference Network for Hereditary Metabolic Diseases at Udine University Hospital in Udine, Italy. “The diagnosis of an asymptomatic child allows the choice of the best care and the best treatment. Newborn screening is indeed the way to go for a treatable disorder in order to limit the progression of the disease or the effect of the disease.”

Scarpa was one of four speakers at the 2023 APHL/ISNS Newborn Screening Symposium keynote session, “60 Years of Screening: A Time to Celebrate and a Time to Reflect,” in Sacramento, California in October. The keynote speakers examined newborn screening in a SWOT analysis framework—looking at the program’s strengths, weaknesses, opportunities and threats.

Newborn screening was created in 1963, after Robert Guthrie, MD, PhD, developed a blood test to screen for phenylketonuria (PKU) in New York. When discovered early, PKU can be treated with a lifelong specific diet and special nutritional supplement. Without treatment, children can develop permanent intellectual disabilities.

In the past 60 years, more than 750 million babies have been screened for PKU, Scarpa said, with 60,000 cases identified and treated. “An entire football arena can be filled up with all the children saved by [PKU] newborn screening,” he said.

Now PKU is one of more than 30 conditions recommended for US states to screen as part of their routine newborn screening programs. Most laboratory testing that supports state newborn screening programs is conducted by a public health laboratory.

Technological advancements in newborn screening

Newborn screening is so much more than that heel stick, said Jerry Vockley, MD, PhD, of the University of Pittsburgh Schools of Medicine and Public Health. Vockley maintained that the program is more of an “ecosystem.”

“It’s not just the test. It’s not just the follow-up. It’s not just the treatment,” Vockley said. “It’s actually a whole system of pieces that need to be in place for this to be successful.” This includes collaborations with multiple stakeholders, including patients, parents and regulatory agencies.

But as technology advances, the testing process is becoming more convoluted. Now, the addition of next-generation sequencing—which includes whole exome sequencing and whole genome sequencing—allows laboratories to examine the genetic information in a person’s DNA in a much shorter time. This is not a routine part of newborn screening, as laboratory professionals are still learning how to interpret and analyze results with this newer technology.

DNA sequencing can be helpful as a secondary test—after the initial newborn screening heel prick—to determine whether a screening was truly positive for a disease or whether it was a false positive, said Robert L. Nussbaum, MD, chief medical officer at Invitae, a genetic testing company.

In a true positive test, when biomarkers are ambiguous, DNA sequencing can help narrow down the diagnosis and determine what condition the newborn has, Nussbaum said. He cited a study that showed that DNA sequencing was helpful in determining whether there was an unknown genetic explanation for newborns struggling in neonatal intensive care units.

Another new technology that could benefit newborn screening is artificial intelligence, Scarpa said. “I think newborn screening should … start thinking about how to use artificial intelligence so newborn screening can be efficient, valid and with equity and equality for all the newborns that are tested.”

He pointed to one study with data from thousands of newborns in which computer algorithms were able to decrease the false positive rate of metabolic disorders by 25%. “We can indeed create algorithms that can help us in making our newborn screening even more precise, sensible and with an even bigger sensitivity to what we have now.”

However, he added, “We need to do this in a very passionate way, but in a very organized way. … But I think that this is a way that we cannot ignore, and we need to be prepared in order to add this kind of technology.”

Gene editing to cure sickle cell disease

Another advancement connected to newborn screening is gene editing to cure disease. Sickle cell disease (SCD) is one of the conditions included in newborn screening in all US states and territories. SCD is the most common inherited clinically significant blood disease in the country. It affects one in 400 African American newborns in the US.

The SCD survival rate to adulthood has improved significantly, thanks largely to the newborn screening process that detects SCD in the first week of a baby’s life. However, SCD can be incredibly painful and damage multiple organs.

Haydar Frangoul, MD, MS, shared how his team has successfully used CRISPR/Cas9 gene-editing technology to cure patients with SCD. He is the medical director of pediatric hematology/oncology at Sarah Cannon Pediatric Transplant and Cellular Therapy Program at TriStar Centennial in Nashville, Tennessee.

“Gene editing tools allow scientists to make very precise changes in the DNA,” Frangoul explained. “These tools allow genetic material to be disrupted, deleted, corrected or inserted at a precise location.”

Frangoul’s team is using gene editing to increase fetal hemoglobin. Before birth, a fetus’ hemoglobin is 95% fetal hemoglobin, he explained. These babies are born seemingly without SCD; their SCD symptoms arise only after their fetal hemoglobin is replaced by hemoglobin A a few months after birth. Previous studies have shown that those with SCD who also had higher rates of fetal hemoglobin as they aged—known as hereditary persistence of fetal hemoglobin—had less severe SCD symptoms.

Therefore, in the CLIMB SCD-121 trial, Frangoul and his team “basically turn patients with sickle cell disease into patients with hereditary persistence of fetal hemoglobin,” he said. To do the gene editing, the researchers collect a patient’s stem cells and “shock the cells” allowing CRISPR/Cas9 to enter. “I think the little kids really get a kick out of it when I say I’m going to electrocute their cells to fix them,” Frangoul said.

CRISPR/Cas9 breaks the DNA at the location needed. The patients undergo chemotherapy to destroy their bone marrow before the gene-edited cells are infused into them.

In the CLIMB SCD-121 trial, Frangoul’s team is using gene editing to decrease the BC11A gene. That suppression increases the production of gamma globin antibodies and increases fetal hemoglobin. The multicenter international trial started over four years ago. So far, 35 patients, ages 12 to 35, have undergone the gene editing. Before the treatment, the median number of vaso-occlusive crises—when SCD pain and other symptoms worsen—ranged from four to five per year. After the treatment, up to three years later, 94% of the patients had not had a SCD crisis or complication, and none of the patients were admitted to a hospital.

The ongoing impact of newborn screening

Gene editing to cure diseases, DNA sequencing to discover the cause of mystery illnesses, and artificial intelligence to improve screening results: all of these extraordinary promises of medical diagnosis and treatment would not have been possible without the creation of newborn screening 60 years ago.

Melanie Padgett Powers is a freelance writer and editor specializing in health care and public health.

The Newborn Screening Symposium, co-sponsored by APHL and the International Society for Neonatal Screening, was held in Sacramento, California, and online October 15-19, 2023.

The post Newborn screening ‘ecosystem’ continues to improve appeared first on APHL Blog.

Posted by in All Posts, conferences, newborn screening, Newborn Screening and Genetics, newborn screening symposium, sequencing, sickle cell disease

Permalink

14Nov / 2022

Sickle cell disease patients lack access to appropriate care after newborn screening and diagnosis

Julie Kanter, MD, director of the adult SCD program at the University of Alabama, Birmingham and president of the National Alliance for Sickle Cell Centers, speaks at the APHL 2022 Newborn Screening Symposium.

By Melanie Padgett Powers, writer

Sickle cell disease (SCD) was first identified in 1910. In 1972, Congress recognized SCD as a significant public health concern, passing the National Sickle Cell Anemia Control Act to establish education, screening, testing, counseling, research and treatment programs. Despite that, it wasn’t until 1998 for the first treatment, a medication called hydroxyurea, to be approved in the US.

“That’s relatively appalling. Almost no other disorders in the room have that kind of tragic history,” said Julie Kanter, MD, director of the adult SCD program at the University of Alabama, Birmingham and president of the National Alliance for Sickle Cell Centers, which was created in 2020.

It took another 21 years for the next drugs to be approved. And today, Kanter said, more than 50% of adults with SCD are not being treated by SCD experts.

Kanter’s presentation was part of the keynote session, “Improvements to Technology, Testing and Treatments: Progressing towards Universality in Newborn Screening,” during the APHL 2022 Newborn Screening Symposium in October.

She illustrated how much more needs to be done to improve SCD treatment and the quality of life for patients—particularly overcoming political and financial barriers to care and engaging families soon after a baby’s newborn screening.

People with SCD, which can be a very painful disease, have abnormal hemoglobin in their red blood cells that causes the cells to become hard and sticky and die early causing a shortage of red blood cells. Kanter pointed out SCD is a multi-system vascular disease—it’s not only about the red blood cells. “All that damage to the endothelium and the inside of the blood vessel means there’s not a single organ that remains unaffected by this disease,” she said.

SCD is the most common inherited clinically significant blood disease in the US, Kanter said, affecting approximately 120,000 people. The survival rate to adulthood has improved from less than 50% in 1970 to nearly 95% in 2010, thanks largely to the newborn screening process that detects SCD in the first week of a baby’s life. SCD was first included on the newborn screening panel in 1975, starting in New York. By 2006, it was on all 50 state panels, which is considered a major public health success story.

However, Kanter illustrated that while many newborns are diagnosed early, they are not receiving appropriate care or being seen by a SCD specialist throughout their lives. She illustrated the problem through the case of her SCD patient Janelle (not her real name), age 29. By the time Kanter saw Janelle as an adult, she had several complications including fatigue, chronic pain, death of bone tissue in two joints and alloimmunization, meaning her body’s immune system put up a fight against the red blood cell transfusions that should have helped her.

Janelle had also tried one of the only SCD medications at that time, hydroxyurea, but she didn’t take it regularly because she wasn’t sure why she was supposed to be taking the drug, Kanter said. Janelle was among those who lived into adulthood with SCD. However, she was on disability, had to drop out of college, felt she couldn’t leave her house for long periods and had been hospitalized five times in the previous year.

“This is why we’re not there yet. We’ve improved childhood mortality—great. … But we haven’t improved mortality overall, specifically in our young adults,” Kanter said. Recent data show adults with SCD die on average at age 43 for women and 41 for men.

In 2015, Kanter restarted Janelle on hydroxyurea—and explained to her why she needed it—and created an individualized care plan for her. Those interventions decreased her hospitalizations to twice a year, but she still had very frequent acute pain. In 2017, she was given a new drug, crizanlizumab, which significantly decreased her acute crises. Her last hospitalization was in 2018, though she still seeks treatment at Kanter’s clinic for frequent pain.

Janelle later asked to be considered for gene therapy, but an evaluation showed that she had more antibodies in her blood than Kanter had ever seen. This meant there were no blood units available that she would need to have blood transfusions as part of gene therapy. Because Janelle had not been cared for appropriately and had not previously seen a SCD specialist, she could not undergo gene therapy, Kanter said.

How to improve sickle cell disease care

While SCD is more prevalent than hemophilia and cystic fibrosis combined, there are only half as many comprehensive adult SCD centers in the US compared to more than 130 each for the other two diseases, according to Kanter.

Until recently, SCD had no coordinated network of centers; they were all operating in siloes. And there was no clear definition of what a sickle cell center was. There is no SCD registry to collect long-term data, and there is an insufficient number of centers with experts focused on adult SCD care.

“How’d you know if you went to a sickle cell center versus someone who hung their shingle up and said, ‘yes, we can take care of you with sickle cell disease’?” Kanter explained.

And the drugs now available to treat SCD are used by less than 50% of the people who need them. The rise in mortality occurs in the early adult years, ages 20 to 24, which often puts the blame on the transition from pediatric to adult care. But Kanter said that’s not the full story. She undertook a study of 421 SCD patients to see when patients were lost to follow-up care.

“The most common predictor for whether or not they made it to my adult center was whether they were seen after 15 years of age. … These patients were lost to follow-up long before transition [to adult care],” she said.  

To prevent this, Kanter called for early engagement with families from sickle cell centers, right after newborn screening leads to a SCD diagnosis. Recent data show that early childhood-specific treatments are not being done. Penicillin prophylaxis is given continuously to fewer than 30% of children ages 1–5 with SCD. There is currently no standardized protocol for SCD diagnosis via a newborn screening program and no definition for when the program resolves and closes the case.

“This clearly suggests to us that there’s some insufficient, poorly standardized newborn screening follow-up programs because some of these kids just aren’t getting to care,” she said.

“As a result,” she added, “there’s no assurance that a child diagnosed with sickle cell disease will ever see a sickle cell disease specialist.”

Kanter invited newborn screening programs to join her ENHANCE Study, an APHL-funded quality improvement project to study and develop an optimized protocol for notifying SCD families and a definition of “case resolution” for newborn screening departments. Kanter is also leading the RECIPE study, which aims to identify and link underserved adults with SCD to specialists. The RECIPE study will adapt the concept of “linkage coordinators” used successfully in HIV care.

“I can’t tell you the number of 30- to 50-year-olds who walk into my clinic that haven’t been seen by a sickle cell specialist,” she said. “Many of them don’t even know we exist, much less how to get there or make an appointment.”

Kanter acknowledged that newborn screening for SCD has resulted in amazing improvements in care and reduced childhood mortality. “But despite these improvements, many children and adults are not getting guideline-based care for sickle cell disease.” Although several “amazing” therapies are being developed, without access to SCD centers, patients will never receive the right treatments, she said.

Melanie Padgett Powers is a freelance writer and editor specializing in health care and public health.

APHL 2022 Newborn Screening Symposium was held in Tacoma, Washington and online October 16-20, 2022. 

The post Sickle cell disease patients lack access to appropriate care after newborn screening and diagnosis appeared first on APHL Blog.

Posted by in All Posts, conferences, newborn screening, Newborn Screening and Genetics, newborn screening symposium, sickle cell disease

Permalink

18Oct / 2022

Importance of newborn screening for early detection and treatment emphasized by patients and families

Three panelists share their stories during the APHL 2022 Newborn Screening Symposium.

By Melanie Padgett Powers, writer

At six weeks old in the early 1970s, Kendra Hogenson was adopted. But her new parents quickly realized that instead of cooing and wiggling around, all their baby did was cry and beat her head against the wall. They had no idea what was wrong with their daughter and took her from doctor to doctor seeking help.

As Hogenson, now age 51, told her story as part of the Parent/Patient Panel during the APHL 2022 Newborn Screening Symposium in October, she began to cry. “One doctor even said, ‘put her away in an institution; she’ll never amount to anything,’” she recalled. But Hogenson’s mom said, “I know she’s in there.”

Finally, a pediatrician suspected sickle cell anemia and had the baby tested. The results were positive. Sickle cell anemia is part of a group of inherited disorders known as sickle cell disease (SCD). People with SCD have abnormal hemoglobin in their red blood cells that causes the cells to become hard and sticky and die early, according to the Centers for Disease Control and Prevention. The red blood cells can also get stuck in small blood vessels, causing severe pain and other serious health problems.

Routine newborn screening in the US will celebrate its 60th anniversary next year, and as of 2011 all 50 US states were screening for at least 26 disorders. Through a simple heel prick in the hospital when a baby is one to two days old, newborn screening tests an infant for rare but serious disorders that can be treatable.

If Hogenson, born in Washington, had received newborn screening when she was born, SCD would not have been included in the panel. New York was the first state to screen for the disease beginning in 1975. It wasn’t until 2006 that universal newborn screening for SCD was in place in all 50 states, Puerto Rico and the US Virgin Islands.

As a child, Hogenson was in and out of Seattle Children’s Hospital, which she referred to as her “second home.” She’s had meningitis three times which caused brain damage; strokes that led to learning disabilities; more than 20 surgeries; and 32 years of routine exchange blood transfusions, which she credits with saving her life.

Despite her challenges, Hogenson said she “exceeded all their expectations.” She graduated high school even though it was difficult: “Me and math still don’t get along.” She drives and has held a full-time job. “I wasn’t supposed to live this long; here’s to proving them wrong,” she said.

She thanked Symposium attendees for now screening every infant for SCD, “so their families don’t have to go what mine went through to find out what was wrong.”

Hogenson and fellow panelist Denise Bazemore, a 63-year-old woman who also has SCD, will soon be living in a new “sickle cell house” in Seattle called the “HUB,” which was developed by the Metro Seattle Sickle Cell Task Force, a grassroots organization.

HUB, which stands for healing, use and belonging, will offer people with SCD massage, yoga, acupuncture, reflexology and other therapies. It will offer educational and occupational workshops and offer a safe place for those with SCD to connect and support each other.

Improving newborn screening education

Susan Mays and daughter, Indie, share their story at the APHL 2022 Newborn Screening Symposium.
Susan Mays and daughter, Indie, share their story at the APHL 2022 Newborn Screening Symposium.

Also speaking on the panel were Susan Mays and her daughter, Indie, age 9. Thanks to the newborn screening program, Indie was diagnosed with maple syrup urine disease (MSUD) a few weeks after she was born. MSUD is a condition in which the body cannot process certain amino acids, requiring a strict low-protein diet.

Susan Mays said she didn’t really know what newborn screening was until her baby’s second-week follow-up appointment with her pediatrician, when she was told her daughter needed a second screening test.

“It makes me cringe to think about it now, but at the time I questioned why a second test was necessary, simply being clueless as to its importance,” she said. Indie wasn’t showing symptoms of MSUD, making the second test all that more important because that’s what led to her diagnosis. She had a confirmatory test a few days later.

Now Indie is a happy little girl who loves soccer, French fries and reading. She’s limited to 12-15 grams of protein a day and drinks four to five servings a day of medical formula.

While Mays said the process of getting tested and notified was “textbook,” she pointed out that she doesn’t remember being told about newborn screening during her pregnancy. She didn’t understand what it was for, causing her to push back a bit on that second test.

Mays said there’s an opportunity to explain what newborn screening is “far earlier than when the mom is pregnant,” perhaps even teaching about it as part of high school sex education classes. And it should certainly be emphasized in birthing classes and by pregnant women’s health care providers, she said.

It’s also important for families like hers to continue to share their stories about how newborn screening saved their babies’ lives and led to earlier treatment, she said. “I think all of us who have been impacted have a responsibility and an opportunity to help educate, starting with your friends, your family, using social media. I don’t think it relies on any one person or any part of the puzzle. Certainly, there’s a big opportunity for an understanding of why it’s done and why it’s important.”

The presentation concluded with a powerful video of other families sharing how newborn screening saved their babies’ lives. Afterward, attendees and panelists, and other families affected by newborn screening, gathered for a mixer in the exhibit hall.

Melanie Padgett Powers is a freelance writer and editor specializing in health care and public health.

APHL 2022 Newborn Screening Symposium was held in Tacoma, Washington, and online October 16-20, 2022. 

The post Importance of newborn screening for early detection and treatment emphasized by patients and families appeared first on APHL Blog.

Posted by in All Posts, conference, conferences, maple syrup urine disease, newborn screening, Newborn Screening and Genetics, newborn screening symposium, sickle cell disease

Permalink

21Sep / 2018

Improving newborn sickle cell screening in Africa: ‘We can affect change there just like we did in the US’

Improving newborn sickle cell screening in Africa: ‘We can affect change there just like we did in the US’ | www.APHLblog.org

by Kim Krisberg

In the US, nearly all children born with sickle cell disease survive into adulthood. Across the globe in sub-Saharan Africa, more than half of babies born with the genetic condition don’t survive until their fifth birthdays.

A major reason for the stark disparity is the region’s lack of newborn screening capacity, which allows for early detection and medical intervention. Here in the US, state public health laboratories automatically test babies for a number of genetic and metabolic disorders, including sickle cell disease, as part of their universal newborn screening programs. In sub-Saharan Africa, however, diagnostic and treatment capacity is severely limited, despite the region being home to more than 75% of the disease’s global burden.

Researchers estimate that about 240,000 babies are born with sickle cell disease in sub-Saharan Africa every year, with studies estimating that at least half of such children die before age five (though research finds the under-five mortality rate related to sickle cell disease in the region could be as high as 90%). Globally, the number of people with sickle cell disease is expected to grow by 30% by 2050. Early detection and diagnosis is critical to pushing that child mortality rate down, but to date, no country in sub-Saharan Africa has been able to establish universal newborn screening for any disease, including sickle cell disease.

Sickle cell disease is an inherited red blood cell disorder in which abnormally shaped red blood cells block the adequate flow of blood and oxygen throughout the body. The disease causes a number of adverse and debilitating effects, including anemia, chronic pain, delayed growth, vision problems and more frequent infections. The disease is manageable with access to relatively easy, low-cost interventions, such as folic acid supplementation, vaccines and antibiotics, pain treatment, dietary changes and high fluid intake.

“This is the same disease we screen for here in the US and we know that if we’re able to detect it early enough and provide the right treatment — prophylaxis penicillin and folic acid — it increases their chances of having a normal life enormously,” says Jelili Ojodu, MPH, director of newborn screening and genetics at APHL. “Sickle cell disease doesn’t have to be a death sentence, as it is now in these countries.”

This summer, the Sickle Cell Disease Coalition — APHL is a member of its steering committee — released a new public service announcement directing viewers to a library of global resources on sickle cell disease screening sites and treatment centers in African regions. Also unveiled was an eight-minute documentary from the American Society of Hematology on sickle cell disease newborn screening efforts now underway in Ghana and how families impacted by sickle cell disease can access appropriate care.

For more than a decade, APHL has been working with providers and health officials in sub-Saharan Africa to institute newborn screening for sickle cell disease, providing technical assistance and guidance on testing methodologies, facilitating relationships with laboratory vendors and in some cases, providing hands-on training in validating lab instruments. The goal, Ojodu said, is to help countries take the first steps in the slow scale-up toward universal newborn screening and foster small pilot projects that expand the evidence base and justification for further investment. For example, in Ghana, where sickle cell disease is endemic, APHL partnered with the Centers for Disease Control and Prevention and the Sickle Cell Foundation of Ghana to offer technical assistance on a variety of related screening activities, such as needs assessments, genetic counseling and educating providers and parents. The initiative, launched in 2011, began with a survey of community needs, which revealed a gap in the availability of genetic counselors who specialize in sickle cell disease.

In turn, APHL led a 2013 workshop on developing a sickle cell disease counselor training and certification program in Ghana, where participants helped tailor a culturally competent training program specific to the needs of Ghana’s communities. Then in 2015, APHL put together a curriculum and trained the first 15 counselors using the new Genetic Education and Counseling for Sickle Cell Conditions in Ghana. A second training workshop took place in Ghana in the summer of 2016.

In all, Ojodu said, APHL has worked with providers in about a half-dozen African nations to improve sickle cell disease outcomes and newborn screening, including Mali, Kenya, Nigeria, Liberia, Uganda and Tanzania. The work, he said, has shown that newborn sickle cell disease screening and counseling in sub-Saharan Africa is possible — the real sticking point is securing the funding and support to shift from small pilots at hospitals and universities to population-wide screening. (He added that most sickle cell disease screening in sub-Saharan Africa is happening in hospital labs, which he said might be the preferred setting for such newborn screening in the region, as public health agencies there must focus their limited resources on considerable communicable disease threats.)

In Ghana, Ojodu noted, providers use the same technology to screen for sickle cell disease as labs do in the US, which underscores the adaptability of current sickle cell disease screening techniques to a variety of settings.

“If we can do it here, they can do it there,” Ojodu said. “Of course, it will take time and coordinated efforts. It’s really a slow build-up of justifying that No. 1, this saves lives, and No. 2, it can be done.”

Venée Tubman, MD, MMSc, a member of the African Newborn Screening and Early Intervention Consortium, which came out of the American Society of Hematology’s Sickle Cell Disease Working Group on Global Issues, noted that a number of attempts have been made to start newborn screening programs in sub-Saharan African, but also reported that no country has yet succeeded in adopting a universal screening effort. She noted that based on progress in sickle cell disease survival rates in the US — where about 96% of babies with sickle cell disease now survive into adulthood — it’s reasonable to believe that similar improvements can be achieved for children in sub-Saharan Africa with the expansion of early detection and treatment. For instance, in the US, CDC reports that with the introduction of pneumococcal disease vaccination, sickle cell disease related deaths among black children younger than four dropped by 42% between 1999 and 2002.

“That fact that we were able to implement some basic measures and increase survivability pretty dramatically leads me to believe that, yes, most of these deaths are preventable,” said Tubman, an assistant professor in pediatrics at Baylor College of Medicine.

She added that the existence of the consortium and the Sickle Cell Disease Coalition speaks to the progress being made to boost early detection and intervention in sub-Saharan Africa.

“Even beginning to strategize and organize around this problem — the infrastructure limitations and the myth and perceptions around sickle cell — is a sign of progress,” Tubman said. “We have a long way to go, but at least we’re on the road.”

Ojodu noted that with the elimination of CDC funding for global newborn screening development, APHL is looking for new funding partners to continue its work abroad.

“This is possible,” he said, referring to improving sickle cell disease survivability rates in sub-Saharan Africa. “We can affect change there just like we did in the US.”

 

*Header photo is a screenshot from the Sickle Cell Disease Coalition’s “Global Sickle Cell Disease Public Service Announcement.”

The post Improving newborn sickle cell screening in Africa: ‘We can affect change there just like we did in the US’ appeared first on APHL Lab Blog.

Posted by in All Posts, ghana, Global Health, newborn screening, Newborn Screening and Genetics, newborn screening month, newborns, SCD, sickle cell, sickle cell anemia, sickle cell disease

Permalink

10Oct / 2017

Sickle Cell Disease: Data Saves Lives

Woman receiving care at the new sickle cell clinic in the Martin Luther King, Jr. Outpatient Center in Los Angeles, California.

“One minute I’d be fine, the next minute I’d be in pain. It would just come out of nowhere,” says Tywan Willis. “I would have pain in my lower back, my shoulders, and sometimes in my legs. I can’t describe it. I just know it’s a really bad pain that I get.”

Tywan has sickle cell disease (SCD), an inherited blood disease that can run in families and causes abnormal, sickle-shaped red blood cells. Pain is the most common complication of SCD, and the top reason people with SCD go to the emergency room or hospital.What is sickle cell disease? Healthy red blood cells are round and move through small blood vessels to carry oxygen to all parts of the body. With sickle cell disease (SCD), red blood cells become hard and sticky and look like a C-shaped farm tool called a “sickle.” These cells can block blood flow and keep oxygen from getting to the body’s tissues and organs.

Tywan is a regular patient at a new sickle cell clinic within the Martin Luther King, Jr. (MLK) Outpatient Center in Los Angeles (LA). The Sickle Cell Data Collection (SCDC) program in California, which is funded through the CDC Foundation,* and has been collecting information to monitor the long-term trends in diagnosis, treatment, and access to health care for people with SCD since 2010, provided data that highlighted the strong need for comprehensive care for adults with SCD in LA County.  These data, together with the determination and hard work of many partners, lead to the establishment of the clinic in order to address those needs.

Identifying a Community Need

The SCDC program found that 1 in every 2 adults with SCD in California (about 1500 people) live in LA County. In October 2015, a team of SCD experts used these data to inform LA County’s Department of Health Services about the urgent needs of the SCD community. The data showed no places in the county where adults with SCD could receive quality, comprehensive, and coordinated care. The emergency department was the only option for the many patients who did not have access to doctors who understood the complexities of SCD.

Data on patients with SCD in LA County were mapped by ZIP code. The map showed that most patients with SCD in the county lived within five miles of the MLK Outpatient Center. This new information presented an opportunity to create a clinic that focused on the needs of people with SCD within a medically underserved area.

Providing Comprehensive Care

“The color coded map by ZIP code was the most powerful data. You could easily see at a glance that there was an intensity of adults with SCD living in the MLK geographic region,” said Ellen Rothman, Chief Medical Officer of the MLK Outpatient Center.
“The color coded map by ZIP code was the most powerful data. You could easily see at a glance that there was an intensity of adults with SCD living in the MLK geographic region,” said Ellen Rothman, Chief Medical Officer of the MLK Outpatient Center.

The SCD clinic at the MLK Outpatient Center opened in August 2016, only 10 months after sharing the data from the SCDC program with LA County health officials. The clinic provides comprehensive care to patients with SCD, whom often have other health problems in addition to those related to SCD.

During each visit, clinic patients see both a hematologist (a doctor who specializes in blood disorders) and a primary care provider. The hematologist focuses on SCD-specific needs, helping to reduce health issues and prevent early death. The primary care provider manages health problems unrelated to SCD, such as diabetes and high blood pressure. “We complement each other,” says Susan Claster, the clinic’s hematologist. “Having the primary care provider sitting with me, we cover 90% of what the patient needs and it’s very efficient.”

This combination of expertise effectively addresses the complex health needs of patients with SCD.

The clinic provides access to complementary health services, such as acupuncture, yoga, and exercise classes. Behavioral therapists are available to help with mental health issues related to SCD, such as anxiety and depression. In addition, Patient Navigators guide patients through the clinic process and make their experience as stress-free as possible.

“Since I’ve been going to this clinic, I’ve learned a lot of new things that I didn’t know about sickle cell. They have taught me what to do when I’m in pain and how to treat it. It really works. They’re really good with their patients,” says Tywan. “When I walk in the clinic, they say ‘Hi, Tywan!’ They love me,” he adds with a laugh.

In June 2017, the SCD clinic at the MLK Outpatient Center received the national 100 Brilliant Ideas at Work Award from the National Association of Counties for their new approach to closing the healthcare gap for adults with SCD in South LA.

Tywan is just 1 of about 100,000 people in the United States who have SCD and many of them do not have access to adequate care. The SCD clinic at the MLK Outpatient Center is one example of how public health data and the combined actions of stakeholders can serve the needs of a community and improve the lives of people living with SCD.

The SCDC program is made possible by the CDC Foundation’s partnership with CDC’s Division of Blood Disorders, the California Rare Disease Surveillance Program, the Georgia Health Policy Center, the Association of University Centers on Disability, Pfizer Inc., Bioverativ, and Global Blood Therapeutics.

Learn More

Posted by in genetic disorder, inherited blood disease, Los Angeles, Martin Luther King Jr Outpatient Center, patient care, public health, SCD, Sickle Cell Data Collection Program, sickle cell disease, surveillance

Permalink

12Mar / 2015

CRISPR Meets iPS: Technologies Converge to Tackle Sickle Cell Disease

Researchers from Johns Hopkins University have teamed two powerful technologies to correct sickle cell disease. Linzhao Cheng and colleagues have deployed CRISPR/Cas-9 on iPS cells to replace the mutant beta globin gene.   ACRONYMS AND ABBREVIATIONS CRISPR conjures up images … Continue reading »

The post CRISPR Meets iPS: Technologies Converge to Tackle Sickle Cell Disease appeared first on PLOS Blogs Network.

Posted by in CRISPR/Cas-9, genome editing, iPS cells, sickle cell disease

Permalink