Genetics at Children's Mercy: Providing Explanations, Improving Understanding
As advances in genetic testing generate hope among patients and families looking for answers to address rare (and not so rare) conditions, the Children's Mercy Division of Clinical Genetics is providing medical, financial and emotional support.
Children's Mercy has six physicians, 12 clinical genetic counselors and four laboratory genetic counselors providing state-of-the-art evaluation, diagnosis, treatment and counseling for a variety of inherited conditions.
Members of the team recently conducted a Lunch and Learn covering topics such as when to suspect a genetic disorder; components of a genetics evaluation; and interpretation of various genetic tests. The presentation proved so popular that the team has received numerous requests to repeat it for other departments throughout the hospital.
“The demand from families for genetic testing is exploding,” said Holly Welsh, Genetic Counselor Manager. “Children’s Mercy has the largest genetic counseling group in Missouri and Kansas. Our group gathers and analyzes pertinent information, then synthesizes it in a way for parents and providers to understand. We determine the best tests, help the family find the most economical way to pay for the tests, provide a concise explanation of test results, and recommend next steps.”
Caitlin Lawson, Genetic Counselor, said, “More often than not, the referrals we receive are for patients who have a presenting symptom that has come to the attention of a pediatric provider.”
Growth issues, congenital anomalies, and developmental delays of varying severities are common reasons for referrals and the first step for the Genetics team is to compile background data.
“We’re trying to put together the pieces of a puzzle,” Caitlin said. “We collect records, images and any other available data before the patient even walks through the door.”
Genetic testing is not always appropriate, but when it is, another significant block of time is spent explaining what types of tests are available to families and providers. The best summary of genetic tests types remains the classic “library” analogy: in a library, there are books on a shelf containing valuable information. A chromosome test is the equivalent of a librarian counting the books on a shelf, making sure there’s the correct number, but not opening any books; a microarray looks for missing or extra chapters. It provides more detail than the chromosome test, but doesn’t provide the finest level of detail; next generation sequencing is like reading through each book looking for typos.
Test expense and coverage
Genetic tests can be expensive, and as they become more sophisticated costs increase, with insurance companies increasingly denying coverage.
“The high cost of testing is something that frequently comes up, and I’d say consumers are generally unaware of the cost of genetic testing,” Holly said. “We spend a lot of time walking through what each of these tests does or doesn’t do—which is almost more important—how long they take, how expensive they are, insurance coverage, technologies involved and the number of tests required to access a particular diagnosis.” Costs can range from several hundred dollars for single gene testing to more than $10,000 for whole genome sequencing.
Kendra Engleman, Genetic Counselor, said when genetics testing is ordered at Children's Mercy, the case automatically goes to the insurance precertification department. Orders are also reviewed by laboratory genetic counselors to ensure that the most appropriate and affordable genetic test is selected for each patient.
“Even if a family gets an approval from their insurance to run the test, they still may get a substantial bill if they haven’t met their deductible for the year, or have co-payments,” Kendra said. “If testing will not be covered, we try to find options for getting testing completed at a more economical cost to the family.” Having awareness of these issues and engaging the family in the decision-making process leads to increased patient satisfaction.
After what can prove to be a lengthy process, hopefully a targeted therapy can be identified; however, clear-cut answers are not always forthcoming.
“That’s the really challenging part,” Caitlin said. “We counsel families on the front end that we may get a positive answer that clearly provides a diagnosis for them, but quite often we get ‘variants of uncertain significance (VUS),’ which is a technical term for ‘We don’t have enough information right now to call this variant conclusively benign or disease-causing.’”
Benefits of genetic testing
But even if nothing can be done directly, testing provides three benefits, Holly said. “It can answer the question of ‘Why?’ which parents almost always want to know; testing can offer a prognosis, which is really important for these families; and it can assess risk of recurrence, which can be valuable in family planning,” Holly said. “Even if we don’t have a cure, we can answer those three important questions, and we try do it in a way that is compassionate, educational and appropriate.”
Providing resources
Making families aware of resources available to them is another point of emphasis for the Genetics team, including websites, support groups and handout information.
“We’ve compiled a knowledge base that connects kids and families who have the same real-life issues even if they have different diagnoses,” Caitlin said. “Whether it’s formulating an IEP (Individualized Educational Program) for school or connecting families who have complex medical needs due to totally different reasons.”
‘Keep asking’
Even if treatments aren’t available currently, or expenses are prohibitive, the swift progress of genetic testing technology makes the Genetics team encourage families to “keep asking.”
“We see the landscape of genetic testing and research changing so rapidly that even if we have no answers to offer you in 2018, that’s not to say that can’t change in the years to come,” Holly said.
Learn more about the Division of Clinical Genetics at Children's Mercy.