Wide range of services provides information, options and support
Genetics has come a long way since Gregor Mendel discovered the basic principles of heredity in mid-19th century Europe through experiments with pea plants.
Fast forward nearly 140 years and the international Human Genome Project, completed in 2003, succeeded in mapping and understanding all our genes, which are made up of DNA. Today, we know more than ever about our genes, genetic factors and how they affect our lives and diseases.
We’re light years beyond knowing why our eyes or hair are a certain color, or why we’re tall, short or somewhere in between.
We know infinitely more than even a generation ago about what makes us who we are. There are now more than 2,000 genetic tests available in the field, ranging from prenatal testing to cancer, and more.
Discussing testing with patients and helping them sort through results and options is often the job of genetic counselors such as Amanda Connors, one of nearly a dozen Lehigh Valley Health Network (LVHN) genetic counselors who work in various medical fields in the LVHN region. In an ever more complicated and changing genetic world, she and her fellow counselors offer information, compassion and options.
Connors, who works for LVPG–Maternal Fetal Medicine, says genetic counselors often work in medical practices and are integral parts of a medical team, routinely working with specialists. They provide not only education but empathy and resources. They are master’s-level trained and board-certified, participate in clinical rotations during schooling and complete required continuing education.
In addition to prenatal genetic counseling, LVHN, part of Jefferson Health, also has genetic counselors in fields including cancer, hematology, neurology and cardiology.
“We’ve grown into a society where we want to know [genetic information and risk] if we can,” says Connors. “More people are taking advantage of genetic testing to be able to understand what might lie ahead and possibly takes steps to mitigate or eliminate that risk.”
One of the many genetic screenings Connors offers patients is carrier screening, which can evaluate an individual for more than 400 conditions, including cystic fibrosis. Carrier screening allows people to understand what they may carry in their genetic makeup. Carriers are often not symptomatic, so they would not otherwise be aware of the risk. “This screening allows people to be more informed about what they could potentially pass on to their children,” Connors says.
Other diagnostic genetic testing is available where positive findings can allow a patient and their doctor to more closely monitor potential health troubles, such as a predisposition to various cancers.
Connors says education and empathy are two key parts of the genetic counseling job. Counseling training is an important part of a genetic counselor’s education. “It’s definitely a multidisciplinary profession,” she says.
“We break down information for people in a patient-friendly way. We listen to people and meet them where their emotions are. We give them time to process information and answer all their questions and concerns.”
Doctors can use genetic test results in many ways, says Connors, including determining how someone might respond to a certain cancer medication based on their genetic markers.
Research has identified more than 1,800 disease genes, but often genes are not the sole cause of a medical problem or birth defect. Connors says other factors, such as maternal alcohol use, maternal infection or environmental factors, can influence outcomes.
The genetic counseling profession is growing right along with the genetics field. As of April 2024, there were nearly 7,000 certified genetic counselors in the U.S., according to the National Society of Genetics Counselors
Connors says genetics understandably isn’t something most people know a lot about, so she often starts with the basics so those she’s working with have a good foundation for discussing results and options. She talks about things such as chromosomes, which are like books that store all of someone’s genetic information. Genes, she says, are chapters in those books.
“We use a lot of pictures. Some people are more-visual learners,” she says.
In Connors’ field of prenatal genetic counseling, she says she often forms bonds with the people she works with and they sometimes send her photos or messages about their newborns.
“The job can be emotional at times. There’s the unknown and we’re delivering the news. We know how to explain the diagnosis or results appropriately and offer support,” she says. “Of course, some diagnoses are more difficult than others. No matter what, we’re there for them.”
