Conversations around genetics have become more and more commonplace in recent years as the field has advanced rapidly and direct-to-consumer genetic testing has become part of our everyday lives. Many parents of children with disabilities wonder what role genetics played in their child’s development, whether genetic testing could help them better understand their child’s condition, and more importantly, whether it could give them access to the most appropriate treatments for their child.
To help us answer these questions, we spoke with Pedro Sanchez-Lara, MD, MSCE, FAAP, FACMG, director of Pediatric Clinical Genetics at Cedars-Sinai Medical Center; Melissa Randall, licensed certified genetic counselor, who has nearly 20 years of experience counseling families about genetic testing and genetic conditions; and Lisa Concoff Kronbeck, Undivided’s public benefits specialist.
If you’re like many of us, you may have only a fuzzy understanding of genetics based on faint recall of high school science lessons on the double-helix structure of DNA. If you’re in need of a refresher, we’re here to help.
Because genetics is an increasingly complex and rapidly evolving science, here we provide only a very basic primer. Genetics is the scientific study of genes and heredity, or how traits are passed down from one generation to the next. Our bodies are made up of cells, and each of those billions of cells has 46 chromosomes — 23 pairs — which are passed down from our parents. Chromosomes are the structures that house our DNA, and DNA is made up of smaller sections called genes. Genes are essentially the instructions that tell our cells how to develop and function. Scientists estimate that we each have about 20,000 pairs of genes.
Genetic conditions occur when there are minute changes — also called variations or mutations — in the genes or the chromosomes that hold the genes. Not all variations result in a genetic condition or disease — in fact, all of us have many gene variations, but most of these have no significant effect on our health or functioning. Only a small fraction of all genetic variations result in a recognized genetic condition.
Genetic conditions are categorized into three main types based on whether the mutation is in the chromosomal structure itself or in the genes on the chromosomes:
Chromosomal conditions are organized into two groups:
Monogenic (single gene) genetic conditions result from changes in a single gene. Cystic fibrosis, Tay-Sachs, and hemochromatosis (iron overload) are examples of monogenic conditions.
Multifactorial (complex) genetic conditions result from changes to a single gene plus environmental factors or from changes in a combination of multiple genes. Many cases of autism seem to fall into this category.
When thinking about genetic conditions, it’s important to know that not all genetic conditions are hereditary. If a condition is hereditary, that means it has the potential to be passed down from parent to child. A hereditary condition may be passed down by a carrier parent who might also have that same condition. Alternatively, it may be a condition that presents only when there are two affected copies or a combination of chromosomes from each parent, or the influence of environmental factors.
In those cases, parents are carriers without expressing the condition. But with some genetic conditions, the gene mutation is unique to that generation. For example, while rare, some cases of Down syndrome, such as translocation Down syndrome, can be inherited from an unaffected parent. However, anybody can have Down syndrome regardless of what the parents’ DNA is. New variations occur all the time, and in many cases these “de novo” variants, rather than anything passed down by either parent, are the cause of a genetic condition.
There are thousands of known and well-defined genetic conditions, and new ones are documented all the time as genetic testing becomes more common. The following list is far from inclusive, but it provides information on a few of the more common genetic disorders affecting children.
*Indicates conditions that can have non-genetic causes as well.
Genetics as a field has a lot to offer for families of children with disabilities. It can provide a clearer or fuller understanding of a child’s condition and its origins, narrow a diagnosis in a way that yields more targeted treatments, discover co-occurring conditions that could impact the child’s health or development, and provide other information that may help with the management of the child’s care. Diagnosis of a genetic condition may also help parents find more specific resources and a community with other families whose children have the same diagnosis.
What the process looks like
Meeting with a medical geneticist usually requires a referral, often from your child’s primary care doctor or a specialist on your child’s medical team. Dr. Sanchez-Lara says that typically a first meeting with patients is about getting to know the family and learning what questions are leading them to seek answers from genetics. The geneticist will want to review your child’s medical records and assessments from other providers and may ask you to complete a pre-visit survey to get to know the specifics of your child and family. During the visit, the doctor will do a comprehensive physical examination, order targeted labs or imaging studies that may be helpful and review their findings to walk your family through any genetic testing recommendations and options.
Many genetic conditions are well-documented; scientists have pinpointed the exact gene mutations that cause the condition. In fact, thus far, more than 1,300 conditions with a genetic basis have been identified, according to the National Institute of Health’s National Library of Medicine. These include some of the most common genetic conditions such as Down syndrome, Turner syndrome, cystic fibrosis, Huntington’s disease, and Tay-Sachs disease. Genetic testing can provide a definitive diagnosis for these conditions.
But many children do not present with symptoms that are clearly identified with a known genetic condition — or they present with symptoms that could be caused by any number of genetic conditions. This category includes children who may already have a behavioral, developmental, or neurological diagnosis — such as autism, ADHD, intellectual disability, or dyslexia — as well as children who do not yet have a diagnosis.
For children without a diagnosis, testing may reveal a genetic condition, rule out some genetic conditions, or provide other information that can help guide providers in managing their treatment. For children with a diagnosis, parents and providers may turn to genetic testing for additional data to help them understand the child’s symptoms and treatment options. Although autism, ADHD, intellectual disability, and many other behavioral and learning conditions cannot be diagnosed through genetic testing, such testing may reveal an underlying genetic condition of which the behavioral diagnosis is a symptom or a co-occurring condition. This information may in turn be valuable in planning and managing the child’s care.
There have been more studies into the genetic origins of some conditions than others, so genetic testing may be more or less useful depending on the condition. For example, the genetic causes of autism have been and continue to be widely studied, and multiple gene variations and mutations have been linked to autism. In contrast, for dyslexia, studies to date have not linked as many genes to that condition, so the genetic causes are less well understood. However, because the field is advancing so rapidly, the situation is ever-changing as new studies yield new information.
Potential benefits of genetic testing
Whether or not genetic testing yields a definitive diagnosis or indicates targeted treatments, it still may be beneficial. For some families, it is worthwhile simply to gain a clearer understanding of what the condition is and how it occurred. This can be helpful for parents who are considering having additional children or for those struggling to overcome guilt or worry that they were the cause of their child’s genetic condition.
Dr. Sanchez-Lara explains that he sees a lot of diagnoses “having a mutation that’s new in the family, that didn’t come from either parent, and I think that brings a lot of relief.”
For some families, having a clearly defined diagnosis may not only yield greater understanding of the origins of their child’s condition, but may also help them access targeted resources and equip them to advocate for proper placement and services.
Genetic testing as children get older
If you are the parent of an older child or teen who never received genetic testing, there are good reasons to consider testing regardless of a child’s age or diagnosis. You might be asking yourself, “Why does my child need genetic testing if they already have a diagnosis?” Older children or teens who have an umbrella diagnosis that seems to explain some but not all of their child’s condition may find that genetic testing helps fill in the gaps. Dr. Sanchez-Lara points to cerebral palsy as an example. CP is often understood as arising because of issues during pregnancy or delivery, but he notes that studies have found that between 10% and 40% of children with CP can have an underlying genetic condition.
Because the field is advancing so rapidly, children who had genetic testing in the past with negative results might have different results now. A pediatric geneticist may reinterpret or have the lab reanalyze the previous data in light of new developments in the field, or they may order new testing. Dr. Sanchez-Lara says geneticists today have access to a network of colleagues, vast databases that are continually being updated with new information, and new and improved tests.
“Technology does improve. And so initial testing might have had, you know, a 1% error rate. 1% sounds very low, but 1% out of 3 billion is not trivial,” says Dr. Sanchez-Lara. “If there’s little gaps in the data, maybe a newer test might have filled in those gaps. So having that conversation is very useful just because every so often, or a couple times a year, I will see a family back and do a similar test or use a different lab and finally find some answer.”
Community-building based on genetic testing
In addition, Dr. Sanchez-Lara emphasizes, having a diagnosis opens up doors not only to more targeted resources but to a community. “I like the fact that it connects you to a new community. Once you have a specific answer,” he says, “it’s pretty empowering to find a community out there that’s living the same path as that one individual.”
For a smaller but growing number of children, genetic testing will reveal an underlying genetic condition that is very rare or even never before documented in medical research. In some of these cases, little or nothing may be known about the condition. But, says Dr. Sanchez-Lara, given how dynamic the field is, that is often not the case for long.
“Just going back five years,” he says, “I have examples of families where they were the first ones described [with a specific genetic condition], and maybe a couple months later, there's a second family that connects. And the reality is, those communities will start growing, because access to genetics and genomics is now becoming global.”
It may start with one family, and they may feel alone in the journey. But Dr. Sanchez-Lara says they will find resources out there. There are even groups formed for families facing a rare or novel diagnosis that teach them how to connect with expert providers and researchers. And as more people become identified with a given genetic condition, communities of families living with that condition begin to form online, and those communities, in turn, push for more research and more answers.
“I'm thinking of one condition where a family started with just a few individuals online, and then they got together with 10 people, and then 40 people, and now there's 200 people that are getting together. And the nice part of community building is people want answers, and they want treatments. And so they encourage researchers to study their specific condition.”
Read more about genetic testing in our article Genetic Testing for Children with Developmental Disabilities and Delays.
In conversations around genetics, you may hear the terms “genome” and “genomics.” While genetics is the umbrella term for the scientific study of genes and inheritance, genomics is the scientific study of the totality of a person’s genes, called the genome, “including interactions of those genes with each other and with the person's environment.”
Genomics is a more recent advancement that allows scientists to study complex conditions and diseases that may be the result of multiple gene variations as well as environmental influences. Genetic testing now includes the availability of tests that examine multiple genes or the whole genome, though these tests may not be suitable for everyone.
Genomics is the reason that genetic screenings have advanced so much in the last several years. With genomics, Dr. Sanchez-Lara says, the science has gone from “looking for a single letter change or set of genes that might be involved in a group of conditions, all the way up to sequencing every single gene.” That’s all 20,000-plus genes and all 3 billion “letters” — geneticists’ term for the building blocks of DNA — from each parent. This kind of testing isn’t necessary or appropriate for everyone. For example, in some cases one or a few targeted tests might be appropriate. But Dr. Sanchez-Lara says full genome testing can be useful especially for people who have seen multiple providers and still do not have a definitive diagnosis, and for those who have a diagnosis that explains some but not all symptoms.
Additionally, in children who received genetic testing as infants or at a young age, new issues may occur as they grow and develop — for example, new gastrointestinal issues, the onset of seizures, or delayed or absent speech development. Your pediatric genetics team may want to see your child at intervals to take stock of any new concerns that may have some genetic links.
What is the epigenome?
The study of epigenetics “refers to how your behaviors and environment can cause changes that affect the way your genes work” without changing the actual underlying DNA. The epigenome is “made up of chemical compounds and proteins that can attach to DNA and direct such actions as turning genes on or off, controlling the production of proteins in particular cells. When epigenomic compounds attach to DNA and modify its function, they are said to have ‘marked’ the genome.” In a nutshell, the epigenome is a collection of “chemical marks” that determine how much or little of the genes are expressed.
So while genetics looks at the expression of the genetic code, epigenetics studies all the different factors that influence that expression. The different experiences children have, positive and negative, can rearrange those chemical marks that govern gene expression. This article from UNESCO’s International Bureau of Education states that, “Environmental cues such as childhood parenting conditions and experiences, and adolescent experiences and lifestyle may affect the way some genes are expressed through specific epigenetic signatures that in turn may influence cognitive function necessary for learning and building a stable personality.”
This means that factors such as poor nutrition, school bullying, and excess stress can have a huge impact on how genes are expressed and therefore cause one person to express a genetic trait differently from their parents. Children are particularly sensitive to epigenetic changes and adverse childhood experiences (ACES), including trauma, loss, abuse, poverty, racism, etc., also have an impact on the epigenome. Think of it as the nature vs nurture debate: when it comes to genetics and epigenetics, it’s both! For example, while still unclear, research shows that autism can be caused by both genetic and environmental factors, which sometimes interact.
Although genetic testing can bring up a lot of emotion, many families choose to embark on the journey. If you’re considering seeking genetic testing, your provider may refer you to a genetic counselor.
A genetic counselor is not a physician but is a medical professional who has a master’s degree in medical genetics as well as training in counseling skills. Genetic counselors fill an important role in the world of medical genetics.
“A genetic counselor is someone who is trained in both medical genetics and counseling skills to provide patients and families with very complex information about various genetic conditions and/or potential genetic testing for those conditions in a way that's patient-friendly, easy to understand,” says Melissa Randall, Licensed Certified Genetic Counselor (LCGC). “We really work towards helping the family through the testing process and helping them to make informed decisions as to whether or not the testing is even right for them at that moment.”
Because genetic counselors are trained in counseling skills, they are equipped to help parents through the often emotional process of understanding the genetics behind their child’s condition. The information genetic testing may provide is not always welcome, especially when it reveals a poor prognosis or concerns that may impact your child’s health and future.
What to expect when meeting with a genetic counselor
Randall says that meeting with a genetic counselor, ideally, will feel different than what many of us have come to expect when meeting with medical professionals. In contrast to the hurried experience of some medical appointments. Randall says that genetic counselors, because of the nature of their work, are able to take more time with patients.
“What I see especially with our patients is how surprised they are by how much time is spent during the consultations, because most of us are used to medical providers where it's like, ‘Oh hey, you're here, let's draw your blood; we'll see you in a month!’” says Randall. “There's no real time for that exchange with the provider. It’s a little bit different with genetic counseling. We typically set aside much more time to meet with our patients.”
Deciding whether to do genetic testing may not be easy. A genetic counselor will help by walking you through the testing options and the possible implications of doing genetic testing.
An initial genetic counseling session may last up to 90 minutes. Randall says the sessions usually follow a similar structure in which the counselor takes a detailed medical and family history; talks with the family about their reasons for being interested in genetic testing; explains the testing options, the possible information testing might be able to provide, and the implications of the results; and provides additional education and resources to support the family. She says that families should ask as many questions as they want in these sessions. “For us, it's like the more questions someone brings in, the better.”
How to find a genetic counselor
Accessing genetic counseling is not always easy. “One of the biggest issues is that there are just not enough genetic counselors to service all the people that would need services,” she says, noting that there are only 3,000 to 4,000 practicing genetic counselors in the entire United States. In addition, genetic counseling as a profession is not as integrated with the rest of the medical establishment as it should be.
“I think on our end, it’s just making sure that other medical providers are aware that we exist and that we can provide these services to patients and their families,” says Randall. “So there's been actually quite a push recently to get genetics more involved in [family practice] and primary care so that there can be less of a process to identify people who might need to meet with a genetics counselor.”
She says parents can start by talking to their primary care doctor or other medical specialist, such as an OB/GYN to get information on referrals. While most patients are referred to a genetic counselor by another medical provider, many are also self-referred seeking out services on their own. Because many genetic conditions present in childhood, it is not uncommon for patients to get referred from pediatricians, psychiatrists, and even teachers. She also recommends the National Society of Genetic Counselors (NSGC)’s Find a Genetic Counselor directory, which many patients/families use to find a genetic counselor.
For parents considering genetic testing and counseling, the question of how these services will be paid for may loom large. We spoke to Lisa Concoff Kronbeck tells us about the options available to parents both for diagnostics and for other benefits and supports.
Funding genetic testing
Private pay insurance, for those who have it, is always the “primary payer,” having the primary responsibility for covering claims. If your child’s pediatrician recommends genetic testing, it may be covered by your insurance depending on your insurance plan and the details of your child’s situation. Concoff Kronbeck notes that the definition of “medical necessity,” when it comes to genetic testing and other services, may differ under private insurance plans compared to Medi-Cal and may be less expansive.
Randall says that insurance companies have come a long way in understanding the reasons for genetic testing, counseling, and paying for these services. Genetic counselors routinely work with patients to ensure their testing is covered by insurance and can help determine whether further tests are necessary, and order them. Concoff Kronbeck says this will vary from insurance to insurance and sometimes particular tests may not be covered without certain existing risk factors. And Randall says that, should an issue arise with insurance, many labs have patient assistance programs that minimize out-of-pocket cost.
For those with Medi-Cal, genetic testing and genetic counseling should be covered through EPSDT, which stands for Early and Periodic Screening, Diagnostic, and Treatment. If a family does not have Medi-Cal, California Children’s Services (CCS) may be an option. CCS is a program for children with certain specific diseases and medical issues, and it covers diagnostic testing for eligible conditions. Concoff Kronbeck also notes that in certain circumstances, the Regional Center may assist with prenatal diagnosis in pregnancies where there is a high likelihood of a genetic disorder that would result in the child being eligible for Regional Center services, such as when a parent is a known carrier of a genetic condition.
Funding services and supports
Aside from diagnostics, the kinds of public benefits, therapies, and supports available to children with genetic conditions vary widely depending on what the genetic condition is. Concoff Kronbeck suggests that parents whose child has been diagnosed with a genetic condition start by asking themselves, “What support do my child and I need?” Depending on your child’s condition, you may need anything from skilled nursing to medical equipment to speech therapy and a wide range of other supports.
Your child’s eligibility for specific benefits, therapies, and other supports may depend less on what their specific genetic condition is and more precisely on whether (and to what extent) your child is impacted medically, physically, cognitively, behaviorally, or some combination of these.
For example, CCS covers only medical conditions, so a child with a genetic diagnosis such as Down syndrome who does not also have a CCS-covered medical issue will not be eligible for CCS. But if the same child with Down syndrome also has co-occurring medical issues, those medical needs may be covered by CCS. Likewise, the Regional Center serves only individuals with developmental disabilities, so a child with a genetic condition that impacts them medically but not developmentally will not be eligible for Regional Center services. For parents seeking information about what benefits their child may be eligible for and how to get access, our Public Benefits Decoder is a good place to start.
Finding a community of other families is critical. The following list includes organizations and foundations that are focused on specific conditions, including organizations that promote research and offer information and resources:
Genetic conditions may also come with specific educational challenges. For information about school supports that may be available for children with various genetic conditions, Genetic Education Materials for School Success (GEMSS) offers vetted resources and advice, including about inclusion, on dozens of genetic conditions, including undiagnosed conditions.
For more information about how genetic testing can be helpful to families raising kids with disabilities and where families who are interested can start, read our article Genetic Testing for Children with Developmental Disabilities and Delays.
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