4 months ago

UAB’s genetic counseling team helps families cope with unexpected news

UAB geneticists examine a patient’s record. (Adam Pope/UAB)


Many doctors treat patients under the belief “You are your genes,” meaning that every person is a product of his or her own unique heredity.

The statement is true to some degree, said Dr. Anna Hurst, a medical geneticist and pediatrician in the Department of Genetics at the University of Alabama at Birmingham (UAB). That is because hereditary factors predispose every person to myriad characteristics including hair, eye and skin color, as well as height, physical conditions and diseases.

Recently, there has been a huge increase in awareness about genetic predisposition following actress Angelina Jolie’s announcement that she carries a faulty copy of the BRCA1 gene, indicating that she has a strong hereditary tendency toward breast and/or ovarian cancers. Jolie elected to undergo preventative surgery to ensure she would not develop the cancer that killed her mother.

Most cases are not so clear cut, said Dr. Anna Hurst, a medical geneticist and pediatrician at UAB Hospital. In her role, Hurst trains pediatrics and genetics residents at Children’s of Alabama in Birmingham. She and a genetic counselor often see patients together, screening family history forms and meeting as a team to discuss their findings with the patients and medical providers.

“I’ve always been fascinated by the subject of genetics and how it affects people’s lives. It’s a complicated science topic, with implications for an entire family,” said Hurst, who trained in pediatrics at Wake Forest Baptist Medical Center and studied medical genetics at UAB. She earned a master’s degree in genetic counseling at the University of South Carolina and an M.D. at the Medical University of South Carolina.

A tough discussion

Hurst works in UAB’s Genetics Clinic, which assists with gathering patient information. She performs patients’ physical exams and prepares parents for the possible results.

“Up to 15 to 20 percent of the time, there can be an inconclusive result,” Hurst said. “There can also be unexpected familial news, and you must prepare the patient and family for the psychosocial results. It is definitely difficult to discuss potential genetic conditions. But, by offering these results, we empower people about how they can use the results to better their health care.

“We treat the patient first, not their genotype, or genetic information,” Hurst said. “With patients who are in our Neonatal Intensive Care Unit or in prenatal, it’s really difficult to discuss. The defect can be part of a larger picture. We try to be supportive throughout that time.”

Working with families, Hurst said that it’s the counseling team’s role to determine whether there is a genetic reason behind the occurrence of a health condition, or whether the difference occurred spontaneously. Many conditions happen unexpectedly.

“Many conditions are sporadic and aren’t preventable,” she said.

On the cutting edge

The counseling team – comprising a consulting physician, a genetic counselor and other staff – directs families and patients to support groups as needed. UAB sees patients from throughout the Southeast. Hurst noted that insurance companies cover most genetic counseling and some lab testing.

The UAB Genetics Clinic accepts referrals and sees patients at the UAB Kirklin Clinic and Children’s of Alabama. Prenatal genetic counseling appointments can be scheduled through the Women & Infants, and Children’s Center. The department also participates in ongoing research opportunities such as the Alabama Genomic Health Initiative. The AGHI allows Alabama residents to take part in a biobank – a type of biorepository that stores human biological samples – for use in research. UAB performs initial genotyping, checking 59 actionable genes.

Hurst works on the Pediatric Genomic Sequencing Project funded by HudsonAlpha Institute for Biotechnology and Children’s of Alabama, seeking to identify genetic diagnoses for children with intellectual disabilities and developmental delays. The goal is to see whether earlier diagnoses help in treating individuals.

“UAB really is on the cutting edge for genetic testing,” Hurst said. “Genomic medicine has real, practical implications for individuals and patients. UAB has an Undiagnosed Diseases Program for individuals with severe chronic medical conditions who are undiagnosed. We try to find opportunities for people to get genetic testing. We are very fortunate to have programs for neonatal and pediatric patients and adults.”

(By Donna Cope, Courtesy of the Alabama News Center)


24 mins ago

Alabama House rejects bill to track race in traffic stops

Alabama lawmakers on Thursday refused to debate legislation that would have required police officers to collect data about race and traffic stops.

The bill sought to require police agencies to record data about the race and ethnicity of stopped motorists. The Alabama Senate had unanimously approved the measure, but it hit a roadblock in the Alabama House of Representatives.


Representatives in the GOP-controlled House overwhelmingly voted down a procedural measure needed to bring the bill up for debate. The House vote was largely split along racial and party lines. Only five Republicans voted for the measure.

“After the vote, Democratic Rep. Merika Coleman from Pleasant Grove said lawmakers were sending a message that, “Bama is still backwards.”

Coleman said the bill collects data to determine if there are problems.

“When you vote against a bill that simply collects data, just data on who is being stopped, why they are being stopped and who is stopping them, there is something wrong with that,” Coleman said.

African-American lawmakers had shared stories of being stopped by police during debate on the bill as it moved through the Alabama Legislature.

The bill’s defeat sparked a filibuster by African-American legislators and threatened to cloud the remainder of the session. It eroded warm feelings that had filled the chamber moments earlier when lawmakers broke out in applause after voting to create a state holiday honoring civil rights icon honoring Rosa Parks.

The bill drew opposition from some law enforcement representatives who said departments already have policies against racial profiling and the bill would require additional paperwork.

Rep. Connie Rowe, a former police chief, said she was concerned that officers, assigned to work in mostly minority neighborhoods, could wrongly appear to be targeting minorities if the data was collected.

Rep. Allen Farley, a former assistant Jefferson County sheriff, was one of the Republicans who voted for the bill.

“This to me protects the good guys,” Farley, a Republican from McCalla, said. Farley said bad officers need to be identified.

House Speaker Mac McCutcheon, who voted against the bill, said he wanted to meet with lawmakers to see if they could work out a compromise plan.

(Associated Press, copyright 2018)

Jeana Ross is a 2018 Yellowhammer Woman of Impact

An Alabama program called First Class Pre-K is seeing such extraordinary results that Harvard University is producing a documentary about the effort and more than 30,000 four-year-olds were pre-registered last year in hopes of snagging one of the less than 17,000 available spots state-wide.

The program is overseen by Alabama Secretary of Early Education Jeana Ross, a 2018 Yellowhammer Woman of Impact, who has seen First Class Pre-K’s attendance increase by 374 percent under her leadership, while maintaining the highest possible ranking for quality by the National Institute for Early Education Research (NIEER).

Alabama hosts the program in more than 950 classrooms statewide and is one of only two states to meet all 10 of the institute’s quality benchmarks.


Ross told Yellowhammer News that the most rewarding part of her work is seeing firsthand the impact that skilled teachers can make, inspiring “a sense of wonder, joy, creativity, achievement and success” in a student’s learning.

“I care about children and their right to reach their greatest potential,” Ross said. “Education can and should provide children a powerful opportunity to find purpose and success for their future lives.”

Studies measuring results from tests such as the Alabama Reading and Math Test and the ACT found that First Class Pre-K alumni outperformed their peers who did not attend the program, according to the Alabama School Readiness Alliance.

Ross helped secure a $77.5 million preschool development grant to help fund the state-funded program, which also requires local communities to provide at least 25 percent of the funding to participate.

Also under her leadership, the Office of Early Learning and Family Support division of her department has expanded to serve 4,289 vulnerable families and children through more than $12 million in federal awards.

In all, Ross has led her department in writing and receiving federal grant awards totaling more than $100 million.

She attributes much of her success to the partnerships she has built with other groups serving children and families in Alabama to build a cohesive support system.

“My success has been achieved in a collective effort of devoted educators who, regardless of pay or recognition, work to create experiences where children enjoy through natural curiosity and joyful exploration a love of learning that lasts a lifetime,” Ross said.

Ross is a member of Governor Kay Ivey’s cabinet and was appointed by Governor Bentley in 2012. She advises the governor and state legislature in matters relating to the coordination of services for children under the age of 19 and, among her divisions, also oversees the Children’s Policy Councils, the Children First Trust Fund and the Head Start Collaboration office.

Ross previously served in a variety of education roles in Alabama, including as a central office administrator, assistant principal and classroom teacher. She holds a master’s degree in education leadership from the University of Alabama and a bachelor’s degree in early childhood education from UAB.

“My hope for education in Alabama is for every child to have a competent, sensitive and responsive teacher every day, every year,” Ross said.

As other states look to Ross’s success in Alabama’s early education, she offered three recommendations in a 2017 U.S. Department of Education interview:

“Set high-quality standards, communicate what those are, and demonstrate what they look like; involve parents, businesses and industry leaders in the initiative; and provide supports such as coaching and monitoring to maintain quality,” she said.

Ross and her husband live in Guntersville and Montgomery and have two adult sons and two grandchildren.

Join Ross and special guests from across the state for a Birmingham awards event March 29 honoring the 20 Yellowhammer Women of Impact whose powerful contributions advance Alabama. Details and registration may be found here.

Rachel Blackmon Bryars is managing editor of Yellowhammer News.

1 hour ago

Reward offered in 6-year-old case of Baby Jane Doe

Police found the bones of a little girl six years ago in an Alabama trailer park right next to a long-sleeve pink shirt with heart buttons and a ruffled neckline.

The unidentified girl in the unsolved homicide case has been dubbed Baby Jane Doe. The Lee County District Attorney’s Office announced Thursday up to a $5,000 reward for information leading to an involved person’s conviction.


Lee County District Attorney Brandon Hughes says authorities can begin holding perpetrators accountable once the child is identified.

Opelika Detective Sgt. Alfred White says they have the child’s DNA, but nothing to compare it to. The Opelika-Auburn News reports that police suspect the girl suffered abuse and malnutrition. Police Chief John McEachern says the girl could have easily spent her entire life in captivity.

(Associated Press, copyright 2018)

2 hours ago

Alabama Secretary of State to Facebook: ‘Don’t say you helped us with something if you didn’t help’

Secretary of State John Merrill challenged Facebook CEO Mark Zuckerberg’s revelation that his company helped disrupt the spreading of false information during Alabama’s special U.S. Senate election last December, telling Yellowhammer News that he has been shown no evidence to support Zuckerberg’s claim.

In an interview published Thursday, Zuckerberg revealed to the New York Times that his company targeted and eliminated a “significant number of fake Macedonian accounts that were trying to spread false news” about Alabama’s election.

Merrill’s office spoke with Facebook’s Government and Politics Team on Thursday to follow up about Zuckerberg’s claims.


“We said, ‘we don’t know what you’re talking about.’ We wanted one specific example,” Merrill said.

Just a week before the election in December, a deceptive campaign ad implying that voters’ ballot selections would be made public was spread on Google and Facebook. Merrill’s office contacted both Google and Facebook and asked for the ad to be removed. Google removed it, but Facebook did not.

Merrill said Facebook never responded about the ad.

“We believe that people in each state need to have accurate information that’s truthful,” Merrill said. “If [Facebook] can’t use their platform for that, they shouldn’t allow that kind of content be published.”

He continued, “For future races, I think it’s important that Facebook be available to address serious issues, for candidates, for officials, and be responsive in that they hear what the accusations are and evaluate merits of the claim.”

Facebook is receiving pressure from all sides after recent reports revealed that it allowed Cambridge Analytica, a private data firm associated with President Donald Trump’s campaign, to mine data of more than 50 million of the platform’s users without their permission.

Merrill said that he hopes the pressure will lead to some change.

“I think they’ll be more responsive,” he said. “The people will hold them more accountable. I hope people will hold them more accountable.”

@jeremywbeaman is a contributing writer for Yellowhammer News

2 hours ago

Lawsuit over HealthSouth fraud cleared to move forward

The Alabama Supreme Court says one-time employees of the old HealthSouth Corp. can move ahead with a lawsuit over the fraud that nearly wrecked the Birmingham-based company.

The justices overturned a lower court decision blocking the lawsuit in a decision Friday.


HealthSouth survived a massive fraud scandal in the early 2000s that resulted in the ouster of founder Richard Scrushy. The company now calls itself Encompass Health.

One-time employee shareholders filed suit in 2003 over the fraud, but the case was delayed 11 years. The court now says the latest version of the lawsuit is related to the original complaint and can go forward.

Encompass Health operates 127 hospitals and 237 home health and hospice locations in 36 states and Puerto Rico.

(Associated Press, copyright 2018)