Parenting with Purpose
Navigating Your Child’s Health Through the Lens of Genetics
Screening for 500+ Conditions and Medication Interactions. New Conditions Added Annually.
Our genetic health screen is built to be at the forefront of children’s preventative care providing genetic disease risk medication response. We continue to expand our list of conditions screened for your child’s annual reanalysis.
The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood.
Hearing loss is the impairment of auditory function, which can have significant long-term consequences on social and language development. It can develop prelingually (before the acquisition of speech/language) or post-lingually (after the acquisition of speech/language).
Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.
A type of disease that affects the lungs and other parts of the respiratory system. Pulmonary diseases may be caused by infection, by smoking tobacco, or by breathing in secondhand tobacco smoke, radon, asbestos, or other forms of air pollution. Pulmonary diseases include asthma, chronic obstructive pulmonary disease (COPD), pulmonary fibrosis, pneumonia, and lung cancer. Also called lung disorder and respiratory disease.
Cardiovascular diseases (CVDs) affect your heart and blood vessels. Almost half of all adults in the U.S. have at least one form of heart disease. You may make lifestyle changes to manage cardiovascular disease or your healthcare provider may prescribe medications. The sooner you detect cardiovascular disease, the easier it is to treat.
The endocrine system is a network of glands that produce and release hormones that help control many important body functions, including the body's ability to change calories into energy that powers cells and organs. The endocrine system influences how your heart beats, how your bones and tissues grow, even your ability to make a baby.
Pharmacogenomics is an important example of the field of precision medicine, which aims to tailor medical treatment to each person or to a group of people. Pharmacogenomics looks at how your DNA affects the way you respond to drugs. In some cases, your DNA can affect whether you have a bad reaction to a drug or whether a drug helps you or has no effect.
There are hundreds of different eye diseases and vision problems. Some have no cure, but many others are treatable.
Eye conditions commonly seen in children include: Amblyopia (also called “lazy eye”) happens when your child’s brain and one eye aren’t working together properly and the brain favors the other better-seeing eye and Strabismus is a lack of coordination between your child’s eyes, which causes the eyes to cross or turn out.
Gastrointestinal diseases affect your gastrointestinal (GI) tract, from mouth to anus. There are two types: functional and structural. Some examples include colitis, food poisoning, lactose intolerance and diarrhea.
There are many types of liver disease. Some of the most common types are treatable with diet and lifestyle changes, while others may require lifelong medication to manage. If you begin treatment early enough, you can often prevent permanent damage. But you may not have symptoms in the early stages. Late-stage liver disease is more complicated to treat.
You have two kidneys, each about the size of your fist. They are near the middle of your back, just below the rib cage. Inside each kidney there are about a million tiny structures called nephrons. They filter your blood. They remove wastes and extra water, which become urine. The urine flows through tubes called ureters. It goes to your bladder, which stores the urine until you go to the bathroom.
Musculoskeletal health refers to the performance of the locomotor system, comprising intact muscles, bones, joints and adjacent connective tissues. Musculoskeletal impairments comprise more than 150 different diseases/conditions that affect the system and are characterized by impairments in the muscles, bones, joints and adjacent connective tissues leading to temporary or lifelong limitations in functioning and participation.
Congenital disorders can be defined as structural or functional anomalies that occur during intrauterine life. Also called birth defects, congenital anomalies or congenital malformations, these conditions develop prenatally and may be identified before or at birth, or later in life.
Childhood or pediatric cancer describes a group of cancers that affect children (infants to age 14) and teenagers (age 15 to age 19). Childhood cancer isn’t common, but when it happens, it changes the lives of children with the condition, their parents and caregivers.
Skin diseases are conditions that affect your skin. These diseases may cause rashes, inflammation, itchiness or other skin changes. Some skin conditions may be genetic, while lifestyle factors may cause others. Skin disease treatment may include medications, creams or ointments, or lifestyle changes.
Personalized Medicine is driven by Individual Health Insight from comprehensive genetic screening, resulting in Tailored Care Planning
The endocrine system is made up of glands that produce, store and release hormones into the bloodstream to each of the body’s cells. These hormones regulate growth, development, body function and mood.
Example Condition
Congenital Hypothyroidism (CH)
CH is a condition where the thyroid gland doesn’t produce enough thyroid hormone.
Thyroid hormone is crucial for growth and development, affecting brain function, metabolism and bone health.
The heart and cardiovascular system pump blood from the heart to the lungs for oxygen throughout the body's organ system. Cardiovascular health monitors our bodies for congenital heart defects, coronary artery disease, heart failure, valvular heart disease, and electrophysiology.
Example Condition
Long QT Syndrome (LQTS)
LQTS is a genetic disorder affecting the heart's electrical system. It can cause abnormal heart rhythms, particularly Torsades de Pointes (TdP), which can be life-threatening.
The vision system is a complex portion of the central nervous system that includes the eyes and connective pathways allowing information to travel to the brain.
Example Condition
Congenital Glaucoma
Congenital glaucoma is a condition present at birth where the fluid drainage channels in the eye are blocked, causing pressure buildup that can damage the optic nerve and lead to vision loss.
The urinary system, or renal system, consists of the kidneys, ureters, bladder and urethra. The urinar system removes waste, controls electrolyte and metabolyte levels and controls blood volume and pressure.
Example Condition
Congenital Nephrotic Syndrome (CNS)
CNS is a rare kidney disorder present from birth. It causes excessive protein loss in the urine (proteinuria), low blood protein levels (hypoalbuminemia), and swelling (edema). Early symptoms might be subtle, but can include foamy urine, fatigue, and poor appetite.
Step 1: Individual Health Insight
Individual Health Insight
Genetic Screening Results
All genes of the Endocrine system are sequenced for current and future health information and insight.
- 36 Endocrine genes screened
- CH condition indicated by PAX8 gene variant
- PAX8 indication would be included in genetic counseling report
Genetic Counseling Guidance
The PAX8 gene is very important to thyroid development and could place child at risk of developing CH. Genetic counselor will answer all open questions, making sure they discuss:
- Endocrine system function
- Thyroid hormone production
- Effects of incorrect hormone levels
- Potential heredity or family implications
Tailored Care Plan
Provider Partnership
Partner with family pediatrician and providers. Likely to see a Pediatric Endocrinologist to follow up on genetic screen result, potentially including:
- Blood testing of thyroid hormone levels (TSH and FT4)
- Thyroid ultrasound
- Discuss thyroid hormone therapy plan & symptom monitoring
Parent Monitoring & Care
In continued partnership with care team and specialists, parents will be monitoring growth.
- Potential physical therapies include stimulating cognitive and physical activities that promote brain development
- Manage thyroid hormone medications
- Regular TSH and FT4 monitoring at provider checkups
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Individual Health Insight
Genetic Screening Results
All genes of the Cardiovascular system are sequenced for current and future health information and insight.
- 42 Cardiovascular genes screened
- LQTS condition indicated by KCNQ1 gene variant
- KCNQ1 indication would be included in genetic counseling report
Genetic Counseling Guidance
The KCNQ1 gene variant is one of the most common indicators of LQTS and genetic counselors will review known translation of results to parents. Counselor will discuss:
- heart palpitations
- fainting episodes
- questions about heredity of condition
Tailored Care Plan
Provider Partnership
Partnership with family pediatrician will likely result in early follow up with pediatric cardiologist. Provider steps potentially include:
- Electrocardiagram (ECG) and Holter monitoring to assess heart rythmn
- Beta-blocker medications to consider
- List of any medications that may impact condition negatively
Parent Monitoring & Care
In continued partnership with care team and specialists, parents will be monitoring growth.
- Regulat cardiology appointments and monitoring of heart rythmn
- Manage level of involvement in strenuous activities
- Monitor fainting symptoms and education on more serious heart episodes related to extreme cases
Individual Health Insight
Genetic Screening Results
All genes of the Optic system are sequenced for current and future health information and insight.
- 12 Optic genes screened
- Congenital Glaucoma condition indicated by CYP1B1 gene variant
- CYP1B1 indication would be included in genetic counseling repor
Genetic Counseling Guidance
The CYP1B1 gene variant will be reviewed including the importance of early detection for vision loss conditions. Genetic counselor will review:
- signs and symptoms of vision loss
- indicators to monitor before seeing physician
- opthamalmologic evaluation next steps
- questions about inheritance of condition
Tailored Care Plan
Provider Partnership
In partnership with family physicians, a pediatric Opthamologist specializing in glaucoma would likely be seen immediately, for a full examination. Exam may cover:
- Pressure buildup
- Current damage or vision impairment
- Care strategy and vision exercises
Parent Monitoring & Care
In continued partnership with care team, and following specialist recommendation, child's vision health will be very closely monitored.
- regular appointments following care strategy
- vision exercises testing common vision milestones
- careful monitoring and tracking of vision milestones
- potential for consultation with geneticist specializing in vision loss genetic conditions
Individual Health Insight
Genetic Screening Results
All genes of the Urinary system are sequenced for current and future health information and insight.
- 12 Urinary (Renal) genes screened
- Congenital Nephrotic Syndrome condition indicated by NPHS1 gene variant
- NPHS1 indication would be included in genetic counseling report
Genetic Counseling Guidance
A variant of the NPHS1 gene, and its possible implications, will be reviewed with likely follow up physician tests discussed. Genetic counselor will review:
- signs and symptoms seen by parents
- fatigue, appetite and urine health
- questions about inheritance of condition
- resources to learn more
Tailored Care Plan
Provider Partnership
In partnership with family physician care team, a Nephrologist specializing in kidney disorders would likely be seen. Specialist will perform a physical exam and likely take further steps:
- Kidney testing & urine tests
- monitoring of protein levels
- medications and dietary considerations
- Albumin injections for protein loss (if necessary)
Parent Monitoring & Care
In continued partnership with family physician and specialist, child's kidney health and urine symptoms will be continually monitored. Parents will monitor milestones as well as:
- administer medications
- test dietary changes and monitor impact
- bring child to health provider for Albumin injections (if necessary)
Empowering Parents with Genetic Knowledge
Being a parent means embarking on one of life’s most profound journeys—a journey filled with love, challenges, and the deep desire to provide the best for your child.
At the heart of this journey is the health and well-being of your little one, a priority that guides every decision you make.
Here, we empower you with the knowledge to navigate the complex world of genetics, transforming it from a daunting unknown into a powerful tool in your parenting arsenal.