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IOWA Magazine | June 2019
Unraveling the Mystery in our Genes
Advances in genetics have generated a flurry of medical and genealogical breakthroughs. But with these rapid changes in the field come complex societal challenges that affect us all—and that UI experts are leading the charge to explore.

From the comfort of her home outside Atlanta, Sharon Beecher (71BA, 73MA) spit into a test tube and sent her saliva sample to AncestryDNA—the largest consumer DNA network.

Beecher wondered if sharing her genetic profile could provide clues to the village where her Czech ancestors originated or offer insight into why certain family members had developed Alzheimer's disease.

She also hoped it would lead to a closer connection with her kin. When Beecher was 3 years old, a gas leak caused an explosion in her home that killed her father, mother, and baby brother. Beecher, who escaped the fire and was adopted by her uncle, thought she was the only one left in her immediate family. But within weeks of submitting her DNA, the 70-year-old received the shock of her life: The test revealed she had a close, previously unknown relative.

A Genetic Revolution

Stories like Beecher's have become commonplace since the 2003 completion of the international Human Genome Project, which deciphered the order of letters in our DNA—opening the floodgates to rapid advances in precision medicine and biotechnology. Researchers at the UI and other institutions are using these discoveries to pinpoint genes associated with certain diseases and find effective treatments that can be tailored to a patient. They're also applying this knowledge to develop clinical genetic tests that make studying DNA easier, faster, and more affordable than ever. These tests are now widely used for everything from helping physicians detect developmental disorders in newborns to identifying the best chemotherapy drug options for cancer patients.

"Genetics has really become an everyday word now," says Colleen Campbell (10PhD), director of genetic counseling operations for UI Hospitals & Clinics, assistant director of the Iowa Institute of Human Genetics at the university's Roy J. and Lucille A. Carver College of Medicine, and a clinical assistant professor of internal medicine. "The general public realizes this is something they can use to improve their health and prevent disease, so there's been this tremendous momentum—mostly driven by the technology—but also by consumers demanding the use of these technologies to improve their health."

Outside of the doctor's office, direct-to-consumer genetic testing companies, such as 23andMe and AncestryDNA, have brought genomics technology into the home by appealing to personal interests in genealogy and wellness. AncestryDNA alone has doubled its users over each of the past several years and is now approaching 20 million customers. As this market grows exponentially, so too has the public's fascination with genetics.

With genetic breakthroughs opening new avenues toward understanding the human body, Campbell says it may be overwhelming for any one person to navigate the far-ranging benefits or consequences of the advances. She emphasizes that people should never make health decisions based on direct-to-consumer genetic tests like 23andMe, but instead turn to the guidance of a medical professional. Fortunately, she and other UI experts now stand on the frontlines of a movement to help Iowans make the most of the unprecedented opportunity in genetics through education, research, and discovery.

Building Awareness

Associate biology professor Bryant McAllister is one of these UI experts who has made it his mission to educate students and the public on what to expect when they send their DNA away for analysis. He says AncestryDNA and 23andMe users should be prepared for the consequences of what these commercial tests might reveal, such as an increased risk for certain health problems or—in Beecher's case—a surprise relative. "It's common for there to be a discrepancy between biology and oral history," he says, "and you need to be comfortable with that."

In 2014, McAllister began using the popularity of commercial genetics tests as a platform to explain the science of DNA through a first-year seminar at the UI titled Who Are You? Revelations from the Personal Genome. As part of the class, students mail their saliva samples to 23andMe—named for the 23 pairs of chromosomes in human DNA. Scientists then extract and analyze DNA from cells in the saliva, surveying 0.02% of the genome at about 600,000 known spelling variants. When the results come back, students not only learn more about their health and heritage, but they're also connected to newfound relatives around the world.

"It's common for there to be a discrepancy between biology and oral history, and you need to be comfortable with that." - BRYANT MCALLISTER, UI ASSOCIATE PROFESSOR OF BIOLOGY

Two years after starting the seminar, McAllister launched the Personal Genome Learning Center to offer UI students a deeper exploration of genetics. Each week, about 20 Hawkeyes meet to prepare monthly presentations on hot topics in the field, such as how an open DNA database allowed California detectives to reinvigorate a 40-year-old cold case and arrest the alleged serial killer known as the Golden State Killer. Speaking to different audiences and at venues ranging from the local children's museum and public library to genealogical societies and retirement homes, the group aims to make the complex science more accessible.

At a DNA Interest Group meeting at the Iowa City Public Library this past summer, UI associate law professor Anya Prince speaks on the legal issues surrounding the use of genetic test data to identify crime suspects.

Personal Genome Learning Center President Hannah Ericson says she enjoys "geeking out about science" with those who share her interest and clarifying common misconceptions about genetics, such as that everyone who has an increased risk of an inheritable disease will end up with it. The group has even opened doors for Ericson, a junior biology major on the genetics and biotechnology track, to write resource materials and make a presentation for 23andMe last year as part of a National DNA Day event that was streamed worldwide.

Since last fall, Ericson also has worked in the research lab of John Manak, an associate professor of biology and pediatrics who's part of the UI's Interdisciplinary Graduate Program in Genetics. Through the study of fruit flies, the Manak lab works to understand the genetic basis of human diseases and disorders such as epilepsy, which could lead to novel drug therapies. "I've always known I wanted to go into research, but this has reinforced that I really love it," says Ericson, who's from Mahomet, Illinois. "I've had a lot of opportunities here that I may not have had at other universities."

A Commitment to the Future

Opportunities for UI students to study genetics extend far beyond the biology department. Alongside other growing fields such as informatics and water sustainability, genetics was one of seven areas the UI prioritized in its 2010 multi-year strategic plan to meet the grand challenges of the 21st century.

The resulting Genetics Cluster Initiative allowed the UI to hire faculty in six colleges to enhance Iowa's research capacity, educational and outreach efforts, and leadership in bringing genetic knowledge to clinical practice. Nearly a dozen professors in areas ranging from biostatistics and biomedical engineering to dentistry and anthropology help guide the UI's interdisciplinary approach to exploring new frontiers in genetics.

With approval from the Board of Regents, State of Iowa, in 2012, the UI also built upon its strengths to become home to the Iowa Institute of Human Genetics, a statewide resource to spark innovation in this multifaceted field. "Collaboration is key," says Anne Kwitek (96PhD), outgoing associate director of the Iowa Institute of Human Genetics and associate professor of pharmacology and internal medicine, of the institute's approach. "You have to get the experts in the same room."

Genetics and the Law

Among the UI's collaborative experts is associate law professor Anya Prince, who provides thoughtful analysis of the impact that genetic breakthroughs will have on society. Part of the genetics cluster hire, she specializes in the ethical, legal, and social implications of genomics technologies—especially related to insurance and genetic testing.

During the spring 2019 semester, Prince taught Genetics and the Law to prepare College of Law students to meet the needs of a complex and ever-changing field. The class covered topics ranging from the privacy and ownership of genetic information to ethics and liability in genetics research and clinical care.

Students started the semester by watching Gattaca, a sci-fi film about a dystopian future in which humans who aren't genetically modified are considered second-class citizens. Facing employment discrimination, the protagonist adopts the identity of a genetically engineered human to pursue his dreams of becoming a space explorer.

The possibility of such a world existed safely in the realm of imagination when the movie premiered in 1997, but Prince's students learned that—without careful watch—this storyline could become reality. In late 2018, twin girls became the first humans born with edited genomes after a Chinese scientist conducted a controversial experiment condemned by the scientific and ethics communities. The scientist's unprecedented use of CRISPR gene-editing technology on human embryos intended for live birth may not only lead to unforeseen consequences for the twins, but also could rewrite the gene pool for generations to come.

In addition to debating the ethics of gene editing, students consider the potential hazards of giving away one's DNA. 23andMe users can consent to the company selling their information (without identifying information) for pharmaceutical research, while law enforcement recently started using the public database GEDmatch to identify suspects through genealogy. A new study estimates that if only 2% of Americans with European descent share their genetic test results on a database like GEDmatch, nearly everyone in that population would find a familial match. Even if a person chooses to keep their genetic information private, a distant family member's decision to share theirs could lead to an arrest—or a call from a long-lost relative.

String Graphic

A Shocking Revelation

Prince's class also discusses what could happen as genetic tests reveal well-kept secrets that some family members never expected to learn. Although the results don't always have legal implications, they often transform family dynamics.

Such was the case for Rhoda Lewis Dearman (77BSN), who found out by age 8 that she was adopted but didn't track down her birth mother until her adoptive parents died when she was 24. From a newspaper clipping inside her adoptive parents' safety deposit box, she discovered a last name and hometown that led to her biological mother. "I know [my birth mother] thought that I was a well-kept secret," says Dearman, a retired Army nurse, "but I felt that I had the right to know where I came from."

"If it hadn't been for the DNA test, I never would have known who my father was." - Rhoda Lewis Dearman

Dearman soon filled out the branches of her mother's family tree, but information about her birth father remained unknown. During Christmas in 2018, her husband suggested she take an AncestryDNA test. She did, and immediately received messages from matched cousins who sent her a photo of a man they believed to be her father. "I looked at the picture, and there was this shock," says Dearman, who grew up in Des Moines, Iowa, but now lives in Louisiana. "It was like I recognized him. I had very little doubt."

When Dearman first became interested in researching her family tree, DNA testing wasn't readily available and was quite expensive. The lack of information known or shared by family members also proved an obstacle. But the AncestryDNA test provided a new avenue through which Dearman could discover her roots. "My birth mother had fallen from a horse the year after I was born, and she claimed amnesia," she says. "If it hadn't been for the DNA test, I never would have known who my father was."

Or fellow Hawkeye and likely half-sister, Sharon Beecher.

From Law to Lab

In this era of big data and dwindling anonymity, genetic test results may send shockwaves through families like Dearman and Beecher's. State-of-the-art genomics technologies may even challenge society's legal norms, as in cases where the discovery of a parent violates the privacy promised an anonymous donor at a sperm bank.

Prince's law students learn about their potential ability to shape the policies and regulations that may help society navigate this brave new world. For example, the Genetic Information Nondiscrimination Act of 2008 already protects Americans from genetic discrimination by health insurers and employers, but should that protection extend to life, long-term care, and disability insurance coverage? Prince, who has a five-year grant from the National Institutes of Health to examine this issue, says: "In a way, the more you understand, the less you are sure about what the policies should be, because it is so complex."

To better understand the science behind the abstract concepts they study in class, Prince's students tour the UI's Molecular Otolaryngology and Renal Research Laboratories (MORL) housed in the Carver Biomedical Research Building. Inside the first laboratory in the world to offer certified genetic testing for hearing loss, associate research scientist Hela Azaiez explains how next-generation sequencing has transformed genetic research. While it once took four to six months to screen a single gene, UI scientists can now screen each of the 152 genes involved in hearing loss for 48 patients in two to three weeks. Within five years, Azaiez anticipates that whole genome sequencing will be commonplace. "It's like a miracle," she says.

UI scientists share how they've revolutionized precision medicine for hearing impairment.

Growing the Field

Even so, miraculous breakthroughs in genetics can only transform lives if health care workers are able to bring them to their patients. Through outreach programs for medical professionals and students of all ages, the Iowa Institute of Human Genetics aims to spread genetic advances across the state. In May 2019, the institute's second annual Precision Genomic Medicine Conference offered Midwest health care providers continuing education credits as they learned how to incorporate genomics technologies into their hospitals, clinics, and practices. The institute also hosts regular bioinformatics training sessions for researchers, STEM activities to generate K-12 student curiosity, and career days that have drawn more than 800 attendees with an interest in a future in human genetics, informatics, or genetic counseling.

Certified genetic counselors such as Campbell—who provide information and support to patients who may have, or be at risk for, a genetic disorder—are in particularly high demand in the state of Iowa as the use of clinical genetic testing grows. As members of medical teams, they offer expertise in properly interpreting test results and empowering patients to make informed health decisions. More than 5,000 certified genetic counselors currently work in the U.S., a 75% increase since 2006.

The outlook of genetic counseling in the state of Iowa dramatically transformed with leadership from the UI, which set a national hiring record for certified genetic counselors in 2016-17. Eighteen of the state of Iowa's 27 active certified genetic counselors are now employed at UI Hospitals & Clinics, specializing in areas such as cancer, neurology, and otolaryngology. "People used to ask me why there was a shortage of genetic counselors in Iowa," says Campbell. "Now I'm routinely invited around the nation to give talks and consult on how to do what we've done here at UI Hospitals & Clinics Genetic Counseling in three short years. It's amazing."

"I think what's important to remember about genetics is that it's one piece of what we do, and it doesn't discard or replace all of the knowledge physicians have used for years." - Colleen Campbell, director of genetic counseling operations for UI Hospitals & Clinics

To keep up with the demands of this field, Campbell and UI medical leaders are laying the groundwork to start a graduate program in genetic counseling. Already, the Iowa Institute of Human Genetics offers competitive internships in genetic counseling to give college students and recent graduates an opportunity to receive hands-on experience. These internships are expected to aid in attracting students to the profession of genetic counseling and to help grow the workforce needed in the state to support an accredited graduate program.

As UI genetics experts create a reality in which patients' DNA unlocks the secrets to their care, it opens the doors to new treatment options and cures that could save countless lives. Still, Campbell says there are limitations to the genetics revolution. "I think what's important to remember about genetics is that it's one piece of what we do, and it doesn't discard or replace all of the knowledge physicians have used for years," she says. "It just provides another piece of information that enables physicians to make even more informed decisions and enhance medical care. And it's not the magic wand that's going to answer every question."

Family Reunion

Indeed, in Beecher's case, decoding her DNA has only raised more questions about her family.

Upon receiving the surprising genetic test results from AncestryDNA, Beecher got in touch with Dearman—whom the test identified as her long-lost half-sister. "I called her up and said, 'Welcome to the family, or welcome back to the family,'" Beecher says of Dearman, whose time as a student and nurse on the UI campus may have overlapped hers. "We ended up talking for over an hour."

Before the test, no one in the Beecher family knew about Dearman. Yet from the little Dearman's biological mother had told her, she knew her birth father served in the military and never learned of her existence.

Beecher's thoughts immediately turned to a photo she had of her dad and his two brothers in uniform around World War II. Because Beecher's cousins had also taken the AncestryDNA test, the family could assume that Beecher's dad was also Dearman's biological father.

Though unexpected, Beecher says she embraces the opportunity to meet Dearman at a family reunion this summer. "I'm letting it settle in with me instead of diving in and doing more research at this point," says the retired school psychologist, "but this is someone I want to know."

Likewise, the experience has been positive for Dearman. As an only child who lost her adoptive parents at a young age, Dearman was delighted to be embraced by new relatives. "I always wanted a sister, so it was exciting," she says. "It's a big thing to suddenly have a family."

Beecher—who grew up alongside her cousins, aunts, uncles, and grandparents—now reflects on her upbringing with gratitude. "In a lot of ways, despite the loss of my parents and brother, I still have the security that this is where I came from. These are the people, for better or for worse, whom I'm related to," she says. "And that's a gift. Because there are a lot of people out there who don't know that and wonder."

More and more, the fabric of our DNA is erasing that mystery.


CHANGING MEDICINE THROUGH RESEARCH

On a mission to transform research discoveries into standard medical practice, the Iowa Institute of Human Genetics has made several breakthroughs in recent years. Here are a few of the many areas in which UI genetics research is making a difference:

HEARING

OtoSCOPE, created by the UI's Molecular Otolaryngology and Renal Research Laboratories (MORL), is the world's first comprehensive genetic test for non-syndromic hereditary hearing loss and common syndromic forms such as Usher syndrome (which also affects vision) and Pendred syndrome (which also can affect the thyroid and balance).

KIDNEY DISEASE

The institute's KidneySeq test helps physicians diagnose and treat renal disease, as well as identify potential kidney donors.

VISION

Numerous tests for rare eye diseases would be commercially unviable without the support of the UI's John and Marcia Carver Nonprofit Genetic Testing Laboratory.

PEDIATRIC ONCOLOGY

UI Dance Marathon helped fund the use of a UI-created pharmacogenomic test for child cancer patients to determine which medication would work best to offset side effects of chemotherapy.

HEART ATTACK AND STROKE

UI scientists have pinpointed how variations in DNA cause certain patients to respond differently to blood thinners designed to prevent stroke, heart attack, and other heart problems.

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What can your DNA tell you?

Approximately 75,000 genetic tests are currently available for clinical use in the United States, with an average of 10 new tests added each day, according to a recent study published in Health Affairs. UI experts predict that genomic data soon will be a staple of patients' medical records, assisting physicians in recommending preventive health care and the most effective treatments. Here's what that genetic information can reveal about you:

Eye Icon Sex, hair, eye color, and other physical traits
Globe Icon Ethnic heritage
Tree Icon Information about your biological relationship to other people
Thermometer Icon Cause of a disease or symptoms, such as heart disease, epilepsy, or cancer
Medical Icon Diseases you may have or be a carrier for, such as cystic fibrosis and sickle cell anemia
Pulse Icon Risk for certain inheritable health conditions, such as Alzheimer's, Parkinson's, type 2 diabetes, celiac disease, and breast cancer
Pill Icon Effectiveness of certain medications and dosages
Magnifying Glass Icon Clues to optimize your diet and exercise plans

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