the AJMG SEQUENCE
Autism testing service includes telephone counseling
Bypasses initial genetics exam
A Utah company that bundles microarray and fragile X testing for autism with pre- and post-test telephone genetic counseling for families has stirred some controversy among medical geneticists at a time when they may begin to receive more autism-related referrals.
The American Academy of Pediatrics (AAP)nowrecommendsthatpediatricians screen all children for autism at 18 and 24 months. That recommendation could result in more autism-related visits to medical geneticists and increase genetics groups' backlogs.
Salt Lake City-based Lineagen says its FirstStep service (FSD), launched in early 2011, is meant to alleviate the need for families to wait months for appointments with their pediatricians. Lineagen, which takes orders only from physicians, markets FSD to pediatricians at a list price of $5,079. The service begins with a buccal swab and telephone counseling for families with one of the companies' certified genetic counselors, says Rena Vanzo, manager of Lineagen's genetic counseling services. “We talk to families before they financially commit to the service. We provide a basic understanding of genetics, and frame these tests in the context of the entire diagnostic odyssey,” she says.
The service provides standard fragile X testing, but its state-of-the-art microarray can find copy number changes as small as 20,000 base pairs. Lineagen's microarray technology also detects single nucleotide polymorphisms and cases of both copies of a chromosome coming from a single parent and potential diseases like Angelman syndrome or Prader-Willi syndrome.
After evaluating lab results and counseling session notes, Vanzo and the counseling team incorporate this information in a report to both the pediatrician and family. The report, written in language that non-genetic specialists can understand, includes visual aides to assist families during the post-test counseling setting. A sample report on a child with Angelman syndrome provided to AJMG Sequence describes health issues that can arise at particular stages of development and specifically suggests evaluation by a medical geneticist and an early intervention developmental program. The report also provides contact information for support groups.
A Lineagen genetic counselor speaks to the family by phone for up to an hour to explain test results and why a child has a particular condition or a normal result, says Vanzo. “We always refer families to a geneticist in their area. I tell families that the test can't diagnose autism and uses analogies so they know why it doesn't rule out all genetic conditions.”
Telephone counseling is not ideal, Vanzo says. Counselors can't see nonverbal cues that may indicate a parent's emotional state and understanding of the information involved. But telephone counseling relieves families of stress related to logistics of a clinic visit and confers visual anonymity that can help parents share sensitive information.
The National Society of Genetic Counselors (NSGC) has no official position on telephone genetic counseling services, but NSGC President Brenda Finucane says it's been used for years “and is helping to provide access in areas and situations where face-to-face access may be limited.”
Vanzo says many families do not understand why they are referred to a genetics clinic and generally receive little support during their months on waiting lists. “Our service is aimed at eliminating those frustrations,” she says.
David Flannery, MD, chief of Georgia Medical College's Medical Genetics Division, says he often has to explain to patients why they were referred to him. “I have to tell them what a geneticist does and that I can't help manage behavior,” he says.
What do Geneticists Think?
Geneticists and a developmental pediatrician roundly praised the microarray technology used by FSD, but emphasized that neither genetic tests nor Lineagen's service have any place in making or confirming an autism diagnosis, which is strictly behavioral. “Finding a specific copy number variation or mutation does not establish or refute that diagnosis,” says Scott Myers, MD, AAP autism management guideline co-author and neurodevelopmental pediatrician at Geisinger Medical Center in Danville, Pennsylvania. He says he worries that the name First Step Dx and some language on the service's website suggests that genetic tests can help clinically diagnose autism.
FirstStep schedules calls between parents and one of the companies' certified counselors.
The buccal swab and ability to get two tests to be named as first-tier in forthcoming American College of Medical Genetics (ACMG) etiological diagnosis guidelines is indeed convenient for families, says geneticist Bradley Schaefer, MD, co-author of both the existing and forthcoming guidelines and Professor of Pediatrics and Genetics at University of Arkansas. “But it looks like a way to avoid a geneticist,” he adds, noting that families who use Lineagen's service may bypass an important clinical exam by a geneticist trained in dysmorphology and spotting syndromes with other worrisome features that cannot be detected by the FSD tests.
Geneticist Ellen Elias, MD, a member of the Autism Subcommittee of the American Academy of Pediatrics Committee on Children with Disabilities gave two examples of such disorders. The first is Smith-Lemli-Optiz syndrome, a condition caused by an error in cholesterol biosynthesis. Children with milder forms may present only with autism, and mild webbing between the second and third toes, notes Dr. Elias, who directs the Special Care Clinic at Children's Hospital Colorado.
Children with PTEN mutations also present with autism, as well as a large head and other subtle features only a geneticist might recognize, Dr. Elias says. It's important to catch these autosomal dominant mutations because parents or sibling may also have them without autism. They may instead have Cowden syndrome, which is associated with predisposition to certain cancers, she says.
Service Can Be Useful
Although Dr. Elias says she prefers that diagnosed autism patients see a geneticist before etiological testing, she adds that ordering FSD may be a reasonable choice for pediatricians in rural areas whose patients don't have access to a geneticist, or if the primary care pediatrician does not feel qualified to discuss genetic testing.
Dr. Flannery, who has twice ordered Lineagen tests for the detail delivered by the microarray they use, doesn't take issue with a primary care pediatrician ordering testing by FSD if that physician knows what he or she is ordering and why, and explains this information so that parents really understand the reasons for the testing. “It all boils down to how well the ordering physician communicates with the family,” he says. When using FSD, Dr. Flannery used neither Lineagen's binder nor directed patients to telephone counseling because his clinic had both in-house expertise and established relationships with the families, he says.
Lineagen's list price is more than many in-house academic or reference labs charge for the same tests, the geneticists noted. Some patients may be eligible for a Lineagen financial assistance program for patients with and without insurance coverage, according to Michael S. Paul, PhD, the company's president and CEO.
“No one test or model works for all families,” Vanzo says. “We offer one possible path and are here to support both physicians and their patients.”