Genomic testing holds exciting potential for disease treatment
Alabama has implemented a visionary and innovative investment in the future of its residents’ health status by awarding $2 million per year for a five-year program. The Alabama Genomic Health Initiative (AGHI) aims to unlock the human genome by identifying specific genes to allow for preventing and treating disease, including certain types of cancer, heart problems and genetic disorders.This is one of the first statewide initiatives of its kind in the United States.
This initiative involves collaboration between the UAB School of Medicine and the Hudson Alpha Institute for Biotechnology in Huntsville to conduct genomic testing of approximately 2,000 Alabamians each year.Participation is free and is being sought to closely reflect the age, gender, race, ethnic and socioeconomic composition of Alabama’s population from all 67 counties.Participants must be 18 or older and will receive extensive education about the program.Test findings will not be released without the participant’s approval.Testing involves the collection of a blood sample.
A list of 59 genes identified by the American College of Medical Genetics and Genomics (ACMG) is being used in this initiative.These genes are known to be associated with an increased risk for cancers, cardiovascular diseases, and genetic disorders.The genes are being identified because there are actions that you and your physician can take to help prevent or detect early onset of their associated diseases.Other genes could be included later.
The AGHI also will use data from testing to better understand the role that genes play in health and disease.It is estimated that 1 to 3 percent of those tested will test positive for one or more of the 59 gene types.A small percent identified with a medical condition believed to have a genetic cause that has not yet been identified will be invited to participate in more extensive whole genome sequencing.
Given the poor health status of Alabama’s population, identifying possible risks for major health conditions in time to prevent these conditions from emerging, or to decrease potential impact through early intervention, holds much promise.Alabama residents have the second highest cardiovascular diseases death rate among all 50 states, with the death rate being more than 17 percent higher in rural counties.They also have the seventh highest cancer death rate among all 50 states, with the death rate being over nine percent higher in rural counties.Genomic testing holds exciting potential to identify individuals with increased risk where prevention can have a very positive health status impact.For additional information on the AGHI, visit the program’s website at uabmedicine.org/aghior call 855-462-6850.
Dale Quinney is executive director of the Alabama Rural Health Association, 1414 Elba Highway, Troy, 36081.
In May 2013, when Gary Minnick was serving as a principal within the Shelby County School System, he had an opportunity to travel with an eight-person team to Reynoldsburg, Ohio, to see a high school the U.S. Department of Education identified as a demonstration site for innovative and personalized student learning.
High school students in Reynoldsburg can choose one of four college/career academies that align with clusters of careers important to the local economy. More importantly, they also reflect the student’s personal interest. A health sciences academy, for example, is geared around the overall theme of health sciences careers yet offers multiple pathways for students to prepare to go to work right out of high school or pursue degrees at community colleges or universities with a head start in their field of interest.
The trip to Reynoldsburg, Minnick says, “struck a chord in me and everything I believe about how education should work. We needed something to motivate students.”
As Minnick explained, if he can get students locked in to the idea that what they are studying is preparing them for what they want to do in life, they will stay in school. “The key for me is high school is all about motivation,” Minnick says.
Shortly after his visit to Reynoldsburg, Minnick took a step to make this vision a reality when he was named principal of Boaz High School, a member of Marshall-Dekalb EC. From his perspective, he saw a city system with one high school as an easier model to work within to establish career academies than a larger, multiple high school system. After he came on board in July, Minnick began a deliberate process to determine “where the school needed to go to help students get the most out of their education.”
He started with the school’s teachers. “My emphasis as a principal is, people support what they help create,” Minnick says. “We needed buy-in from everybody.”
Over the next seven or eight months, the school began moving in the direction of creating career academies. Teachers studied the data provided by Regional Workforce Development Councils related to what jobs would be available in this part of the state, and they devised their pathways based on that data. “We had a strategy. We wanted ours to be research-based,” Minnick says.
By spring of 2014, the school was ready to establish three career academies, and students would choose their preference from these three.
The BELLA Academy is focused on students interested in business, education, law and liberal arts programs. Within that academy, there are a number of pathways that students can pursue, ranging from business finance to performing arts. Students also have the option to take business or law pathways through dual enrollment with nearby Snead Community College.
Within the H3 Academy, students can begin to prepare for high-demand careers in health sciences, human services, and the hospitality and tourism fields. Specific pathways within the academy range from culinary to sports medicine. The E-Stem Academy reflects the high-demand disciplines such as environmental science, technology, engineering and mathematics. Pathways include computer information science as well as environmental natural resources.
“We ended up with a dozen pathways on our campus,” Minnick says. However, if students don’t see what they want at Boaz High School, they can choose from eight career technical pathways at Marshall Technical School or explore dual enrollment with Snead State. In addition, Enterprise State Community College has a nearby satellite campus and offers programs.
Exposure to career academies begins in eighth grade through a preparatory course. “It’s designed for students to examine the career clusters and see the pathways that are available,” Minnick says. Students also tour the high school. “Our target is by the end of eighth grade, they and their parents will have decided which pathway they want to choose.” In the ninth grade, they enter the academy of their preference.
What if they change their mind later? “If they find out they don’t like a particular pathway in high school, I have done them a tremendous service,” Minnick says. Students and parents will have saved the thousands of dollars in tuition they would have paid in college to find out the same information. Regardless, they receive their high school diploma, and the educational preparation assists but doesn’t preclude the jobs or college plans they pursue.
The academies are still new enough that a class of students hasn’t completed the full five-year program, yet Minnick is pleased with the progress. “We’re asking our kids to take on higher challenges, and they’re accepting the challenge,” he says.
Farther south, the Mobile County Public School System (MCPSS) is an example of how a county system with multiple high schools has incorporated the academy concept to deliver education. “All 12 of our high schools are wall-to-wall academies. Every student must be in an academy,” says Larry Mouton, assistant superintendent of workforce development for MCPSS.
In Mobile, students begin the process in a ninth grade Freshman Academy, where they learn about the available academies. “For the next three years they take courses in their pathway,” Mouton says.
Each high school has multiple academies, but because they are designed and implemented by the school, not all high schools offer the same ones. However, if students are zoned to a school that doesn’t have the pathways they want, they can transfer to a school that does. In addition, internships are offered during the summer between junior and senior year that correlate with the student’s academy.
Among the aspects that make academies so successful, Mouton says, “It’s a way for business and industry to talk to students who have a shared interest.”In the past, if he told students an engineering firm was coming to school to talk to about engineering, hundreds who didn’t have an interest might come to hear the talk just to get out of class. At a school with an engineering academy, the firm can talk to students who have already expressed an interest.
“It gives business and industry a conduit to get into the classrooms and talk to the students and directly impact the workforce in our area,” Mouton says. As business and industry meet students and develop relationships, he adds, “this will facilitate their success when they graduate.”
Mobile County’s academies have been in place long enough to see improvement in student motivation. For example, at B.C. Rain High School, Mouton says, “When started five years ago, the graduation rate was somewhat over 50%. This year we anticipate they’ll hit a 90% graduation rate.”
As students see that they’re in a pathway to success, Mouton said they better understand the value of what they do in the classroom. “Our goal is to make sure every child has a pathway to a quality graduation,” Mouton says.
Dr. Seuss said it best in his book I Can Read with My Eyes Shut! “The more that you read, the more things you will know. The more you learn, the more places you’ll go.” And, that’s a primary mission for about 300 Alabama pediatricians and Reach Out and Read-Alabama.
Reach Out and Read-Alabama has helped put more than 1.6 million books in the hands of Alabama’s children. Most of these children are in lower income households and books are a luxury the family often cannot afford. But, the gift of a book is more than the gift of adventure – it’s an opportunity for bonding between parent and child.
Eleven years ago, Brewton pediatrician Dr. Marsha Raulerson helped launch Reach Out and Read-Alabama, incorporating books into pediatric care and encouraging families to read aloud together.
“We’ve given out truckloads of books to our patients,” Raulerson says. “I give a book to every child for every visit, no matter what the age of the child. My community probably contributes about $10,000 a year so we can buy new books because every patient can have a new book.”
In fact, no child who visits Raulerson’s clinic leaves empty-handed. The books she chooses for her patients are not only age-appropriate, but also story-appropriate to each patient’s particular situation. The majority of her patients have special needs, and each book is intended to give her patients hope.
“In Alabama, about 91 percent of our children receive their medical care from either their pediatrician or family physician,” explained Reach Out and Read-Alabama’s Statewide Coordinator Polly McClure. “The way Reach Out and Read works is to use those physicians and medical professionals to introduce the importance of reading to their children and their parents.”
According to the 2017 Alabama Kids Count Data Book, published by VOICES for Alabama’s Children, about 34 percent of children under the age of 5 live in single-parent households and about 27 percent live in poverty. Reach Out and Read-Alabama works to fill some of the gaps a struggling, single parent may face in the early development of their child.
By “prescribing” books to children and encouraging families to read together, children acquire early language skills and build a better foundation for a lifetime of learning. Dothan pediatrician Dr. Michelle Freeman realized early on in her career the value of the Reach Out and Read-Alabama program.
“It creates a library of books for the child, many whom otherwise would not have access to books,” Freeman says. “It also gives me an opportunity as a pediatrician to emphasize to parents the importance of reading to their child. Not only does this help from an educational level, but it also encourages parents to spend quality time with their children. But seeing the joy on the face of a 3-year-old child when they receive their book at their check-up is priceless!”
Dr. Bruce Petitt of West Alabama Pediatrics in Tuscaloosa agreed the Reach Out and Read-Alabama partnership helps not only reinforce the bond between family members but also strengthens the physician-patient relationship.
“Our patients and their families have loved getting a book at their check-up and look forward to seeing which book they’ll get at their next visit. It’s a great opportunity to praise the child’s emerging reading skills and to discuss how reading plays a role in optimal development,” Petitt says.
Reach Out and Read-Alabama provides new and gently used books to the more than 67 medical practices and clinics across the state that participate in the program. The program, which is an arm of the Alabama Chapter of the American Academy of Pediatrics, holds fundraisers and creates partnerships with volunteer organizations such as the Montgomery Chapter of Public Relations Council of Alabama (PRCA).
“We created Change for a Child earlier this year as a way for our members to donate money during our monthly meetings and fellowship activities,” says Megan German Hughes, president of PRCA Montgomery. “We have these wonderful memories of our favorite books from our childhood and wanted to be part of the program providing these lifelong memories for children in Alabama. It’s an honor to be part of the Reach Out and Read-Alabama program and bring adventure and continuous learning opportunities to our families here in the River Region.”
To learn more about Reach Out and Read-Alabama, make a donation, or to partner with the organization, visit http://www.roralabama.org.