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.
Today's questions
Providing clear answers to your current health inquiries
Start your child's healthcare journey with a personalized approach through understanding their unique genetics.
Tomorrow's protection
Preparing you for what the future might hold with preventative genetic health.
Know everything healthcare knows about your child's genetic health... Even the questions you don't know to ask.
A lifetime of security
Equipping you with the knowledge to face unforeseen health challenges confidently.
Give your child the most powerful and comprehensive understanding of their health to carry forward through their life.
Personalized Medicine is driven by Individual Health Insight from comprehensive genetic screening, resulting in Tailored Care Planning
Select a health condition
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)
Genetics 101: General Knowledge on Genetic Health Screening
Introduction to Genetic Health Screening
With 70% of rare diseases having a genetic foundation, our focus is on empowering you with the knowledge to make informed decisions.
How Our Process Works
Genetic Counseling Basics
Parent’s Guide E-Book
Empowering Your Child’s Health Journey with Genetic Insights with our parent’s guide E-book
Parenthood brings the profound duty to nurture and protect our children, guiding us to embrace support, education, and empowerment. Our mission is to navigate the complexities of genetic health with you, providing clarity and confidence.