Genetic Testing and Genetic Counseling
Genes are pieces of DNA that tell the body how to grow and function. Each human cell has about 25,000 genes in it. A change in even one gene can cause a child to develop in irregular ways.
We provide genetic and genomic testing that can help determine whether a person has or may develop a genetic disorder, or if they may have a chance of passing one on to their children. We also provide rapid genetic testing for critically ill infants and diagnostic evaluations for children with genetic or metabolic conditions.
If you are concerned about genetic diseases that may run in your family, or if a child is exhibiting symptoms that cause a doctor to suspect a genetic anomaly, genetic counseling and testing may provide important data that could inform your health care decisions.
Genetic Services We Provide
- Clinical evaluation for genetic disorders
- Comprehensive genetic counseling, including prenatal counseling
- Risk assessment for patients and their families
- Fast genetic testing for sick infants with rapid Whole Genome Sequencing (rWGS) — 3 to 5 days versus traditional genetic testing which could take weeks
- Diagnostic evaluations and care for patients with genetic and inborn metabolic conditions
- Multidisciplinary care coordination to help patients and their families access resources related to their conditions
Prenatal Counseling and Testing
Genetic counselors work closely with families to help them understand the
complex issues surrounding genetics. They can work with you to provide
you with an in-depth analysis of your medical history to assess the risk
of passing any genetic disorders to your children. Then they may recommend
additional screenings or tests based on the results.
Genetic counseling may be recommended for parents or prospective parents for the following reasons:
- Abnormal prenatal screening, including integrated screen, Harmony, alpha-fetoprotein (AFP) test
- Abnormal fetal ultrasound exam
- Advanced maternal age (35 or older at time of delivery)
- Ethnicity-based carrier testing
- Exposures during pregnancy, including medications, alcohol or radiation
- Family history of an inherited condition such as cystic fibrosis, hypertrophic cardiomyopathy or muscular dystrophy
- Parental anxiety
- Pregnant woman who wants to learn more about prenatal screening and diagnostic testing options or their results
- Stillbirth or recurrent pregnancy loss
- Strong family history or conditions such as cancer and heart disease with questions about genetic testing
Whether a patient is referred by a physician or wishes to seek genetic counseling on her own, the team of genetic counselors is equipped with the tools and expertise to choose the most appropriate genetic test, testing laboratory and technology for the patient’s specific medical concerns.
Rapid Genetic Testing for Critically Ill Infants
When an infant is critically ill and in a neonatal intensive care unit (NICU), time is of the essence. Doctors need to find the cause of the illness quickly to identify the best way to treat it.
Recent developments in scientific research using artificial intelligence have enabled scientists to map a person’s entire genome — the full complement of their genetic material — within a short period of time.
Whole genome sequencing (or sequencing of all the genetic material of a person) can identify the root cause of rare genetic disorders and diseases in some of the sickest infants by a simple blood test.
Sophisticated Blood Analysis Can Help Diagnose Genetic Cause of Disease
Through a collaboration between Rady Children’s Institute for Genomic Medicine (RCIGM), some RWJBarnabas Health facilities offer rapid Whole Genome Sequencing (rWGS) to help diagnose unexplained medical conditions in newborns and infants who need immediate intervention.
In most medically urgent cases, RCIGM delivers preliminary diagnoses in as little as 3 business days compared to standard testing that can take 4 to 6 weeks or more. Doctors can then provide a precise diagnosis and administer targeted, sometimes lifesaving care at a time when the therapeutic window is often narrow.
RWJBarnabas Health Facilities With Rapid Whole Genome Sequencing
This testing is now available to critically ill infants in each of RWJBarnabas Health’s level III/IV neonatal intensive care units (NICUs), including:
- Cooperman Barnabas Medical Center
- Bristol Myers Squibb Children’s Hospital at Robert Wood Johnson University Hospital
- The Unterberg Children’s Hospital at Monmouth Medical Center
- The Children’s Hospital of New Jersey at Newark Beth Israel Medical Center
- Jersey City Medical Center
RCIGM clinical genomics experts are also available on an ongoing basis to offer telementoring consultation on RWJBarnabas Health’s patient cases.
High-risk mothers and babies who may be born with a medical complication are best served by hospitals that are equipped or have an affiliation with a facility that can handle any situation that may arise. At RWJBarnabas Health, we give our smallest patients the best chance at a good quality of life.
RWJBarnabas Health is the only health care system in New Jersey and the New York metropolitan area where rapid Whole Genome Sequencing is routinely clinically available to the babies that need it.
Genetic Conditions We Treat
Birth Defects and Hereditary Disorders
For children and young adults with birth defects, chromosome abnormalities, and genetic conditions, we coordinate specialized genetic testing and provide recommendations for medical care with:
- Ongoing long-term follow-up
- Referral to appropriate community resources
- Evaluation of other family members at risk
- Coordination with the primary physician
Inborn Errors of Metabolism
Working with the New Jersey Department of Health and Human Services, we provide follow-up assessment and testing of newborns suspected of having an inborn error of metabolism — rare genetic disorders in which the body cannot properly turn food into energy, also known as congenital metabolic diseases. Evaluation and ongoing treatment is available for infants and children with some inherited metabolic diseases.
A Multidisciplinary Team of Experts at Your Side
Our expert team consists of board-certified genetic counselors and medical geneticists who collaborate with pediatric medical specialists involved in your child’s care.
Using a multidisciplinary approach, we provide high-quality, comprehensive diagnostic and treatment services to patients and families who have or are at risk for genetic problems or birth defects.
In partnership with Rutgers University and Rutgers Health, we offer access to the latest research and resources of a premier academic medical center.
Frequently Asked Questions About Genetic Services
What is genetic testing?
Genetic testing can reveal changes in your child's chromosomes, genes or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder.
What is genetic counseling?
Genetic counseling gives you information that can help you understand how your genes can affect you and your family. It is important to gather as much of your personal and family health history as you can before you meet with a genetic counselor. A genetic counselor is a health care professional who can use the family history you provide to determine how likely it is that you or your family member has a genetic condition.
What is genomic testing?
Genomic testing is when scientists analyze a person’s blood sample to map their entire genome — the full complement of their genetic material. This comprehensive picture of a person’s DNA can give doctors a much greater understanding of the person’s genetic makeup than traditional genetic testing, which tested for individual genes.