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Diagnosing kids using family medical history or genetic testing, or both 

Most days being a pediatrician also means being a puzzle solver. While the puzzle pieces usually come together with an exam of the child, conversations with parents and caregivers, and possibly some blood tests or other screenings, sometimes pieces are missing, and questions remain about what is at the root of the health concern for the child. Consulting a genetic counselor might unlock answers and solutions to solving the puzzle and also provide comfort and perspective about what it all means for concerned families.

In the Talking Pediatrics episode, “Crack the Case: Where Family History is Always “Pertinent”…Inheritance Pearls from a Genetics Counselor,” guest host Dr. Bryan Fate, general pediatrician, and Dinel Pond, lead genetic counselor at Children’s Minnesota, discuss three cases that presented in the Minneapolis clinic, getting a comprehensive and useful family history, and tips to navigate (and explain) genetic testing with families. Pond works in the genetics clinic, pharmacogenomics clinic, and cancer and blood disorders clinic, helping evaluate and counsel children and families with known or suspected genetic disorders.

Case 1: Newborn’s first clinic visit 

The first case discussed was about gathering family medical history for a newborn who had an unremarkable (normal) experience in pregnancy, birth and the first weeks.

During an initial newborn exam, it’s important to gather a good foundation of clinically relevant information about the family’s health history to help guide decision-making going forward. However, many pediatricians struggle with finding a balance between not collecting enough information and getting bogged down in the weeds with way too much information from the family.

Pond advises the following questions for gathering a comprehensive, useful family history: Is there any family history of…

  • Birth defects, including cleft lip, cleft palate, or hole in the heart?
  • Disabilities, including autism or learning issues?
  • Sudden deaths, including SIDS?
  • Hearing or vision loss?
  • Any heart issues, including arrhythmias or heart disease?
  • Seizures or muscle weakness?
  • Any relatives who are very small or tall in stature?

Naming examples like cleft lip or arrhythmias can be helpful to trigger memories for parents and caregivers. Responses to this list of questions can broadly cover a lot of areas, including epilepsy and various types of muscular dystrophy, connective tissue disorders, and heart events that can have little warning. The information gathered from family history conversations might then lead to genetic testing in specific areas. Pond advises steering away from questions about family history of cancer because the answers probably won’t be very relevant to the newborn patient at that point in time and explanations can be lengthy.

Case 2: Language and cultural hurdles after autism diagnosis

In the second case, an East African family brought their 3-year-old daughter to a clinic visit for her well check after recently being diagnosed with autism spectrum disorder. The doctor reviewed developmental supports, therapies, how the family is coping with the diagnosis, and the recommendation that all children with autism undergo a genetics evaluation. Between communicating through an interpreter and the family’s limited knowledge of the topic, they were thoroughly confused and unclear about the choices they faced for their child.

During any medical conversation, it’s imperative for health care providers to begin with a consideration of the family’s base of knowledge and perspective on the topic, as well as other potential communication challenges such as language and cultural beliefs. When talking to families about autism, Pond said she sometimes uses an analogy about recipes. “I usually start by saying, ‘Okay, what we’re talking about here is our understanding [of] how we pass on our [genetic] information, or our instructions, for how our bodies should be built,’” said Pond.

“Most cultures have, as a concept, how following [a] recipe different ways can give you different outcomes,” said Pond. “So, if we’re trying to make a diagnosis of a genetic condition, what we’re looking for is – is there a problem with one of the recipes in your body? [For example], if you [don’t] follow [the recipe], it’s not going to work. It’s not going to turn out [the way it was intended]. And I think that tends to be pretty well understood.”

Families from some cultural or religious backgrounds might not want to pursue genetic tests after an autism diagnosis because they understand this is the way their child is, and they don’t expect anything to change with their child after the tests. However, health care providers know there could be other medical issues discovered that can’t be easily seen with the naked eye but could be identified and treated because of the additional screening. A skilled interpreter can be very beneficial for these situations to help health care providers communicate the benefits of genetic tests and have comprehensive conversations with families, even if they ultimately decide against genetic testing for their child.

Case 3: Evaluating the need for genetic tests

The third case that was reviewed was about a mother who brought her 9-year-old daughter for an exam with concerns about joint hypermobility; the child is a dynamic gymnast. The mother mentioned she has chronic joint pain (no diagnosis), she has been diagnosed with fibromyalgia, there is a family history of cancer, and she wonders about her daughter’s sleep patterns and the shape of her toes. She wanted her daughter genetically tested for various risk factors; it seemed that the mother has some medical anxiety.

Most physicians have encountered a parent or caregiver who asks for medical tests for their child that might not be necessary. Fortunately, there are some standard evaluation criteria for many medical conditions that can be applied in these situations. In the case of joint hypermobility, Pond explains some criteria for who might need to be genetically tested for a connective tissue disorder, including:

  • Age. Young children are generally more flexible than adults; we stiffen as we age.
  • History of nursemaid’s elbow, joint dislocation or related.
  • Unusual stature, including high or low end of the growth curve compared to their parents.
  • Hearing or vision issues, especially if the child has myopia (nearsightedness).
  • Beighton score. This test involves simple maneuvers to check the flexibility of joints. It is not specifically designed for kids, but it can be helpful among other considerations.

Pond also refers to a 5-question evaluation that was developed to assess hypermobility:

  • Can you now [or could you ever] place your hands flat on the floor without bending your knees?
  • Can you now [or could you ever] bend your thumb to touch your forearm?
  • As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?
  • As a child or teenager, did your kneecap or shoulder dislocate on more than one occasion?
  • Do you consider yourself “double-jointed”?

Answering yes to 2 or more of these questions suggests hypermobility. It’s important to consider a child’s hypermobility assessment along with the other criteria before referring the child for genetic testing. Some people have joint hypermobility that does not cause them pain or other issues.

When it’s time to refer a patient for genetic testing

The field of genetic counseling has long advocated for parents to be advised, as appropriate, to defer elective genetic testing of minors for as long as possible, even into adulthood, to prevent a range of potential harms, including stigma, discrimination, and the loss of the child’s ability to decide for themself as an adult. The American Society of Human Genetics issued a position statement on various implications of genetically testing children.

For cancer, Pond recommends genetic testing for anyone with a family member who has been diagnosed with a rare cancer, especially at a young age. Having relatives with cancers like adrenal cortical carcinoma or choroid plexus carcinoma should raise a red flag to test a child and/or the parent for Li-Fraumeni syndrome, an inherited condition that increases the risk of certain types of cancer. If there is a family history of early onset breast cancer, it is recommended to evaluate the parent first since they are more at risk sooner than the child.

Some families with a known cancer predisposition syndrome like a BRCA1 mutation want to test their child or teen. However, in general, genetic counselors frequently recommend waiting as long as possible for this test. “We like to have [the] teenager be involved in that decision making,” said Pond. “There are certainly times where a 17-year-old girl whose maternal aunt was diagnosed [with breast cancer] at 25, so she’s within 10 years of the age at which her aunt was diagnosed – [so] we might actually consider screening her now. It’s a very individualized decision.” Pond says most of the families are receptive to the recommendation after discussing the reasons why testing might or might not be helpful and/or appropriate at that time.

Often the combination of clinical screenings, evaluations and simple blood tests provide enough information for physicians (and reassurance for parents) so no genetic testing is needed. Unless there is a clinical or family history to warrant it, genetic testing isn’t typically very useful to preemptively treat someone, since risks for things like abnormal blood clots or rare cancers are so low in kids and any treatment wouldn’t begin until something medically happens or is detected.

About the genomic medicine program at Children’s Minnesota

The genomic medicine program specializes in helping children with complex needs and birth defects from infant through young adult. We help families searching for the causes of their child’s medical problems as well as those who have already received a specific diagnosis and are looking for support and treatment. In addition to the genetics clinic, we offer multidisciplinary clinics, which provide concentrated, coordinated care for specific genetic conditions. Read more about the genomic medicine program here.

Listen to the podcast or read the transcript for “Crack the Case: Where Family History is Always “Pertinent” …Inheritance Pearls from a Genetics Counselor” here.

Mai Songsawatwong