Approximately 17.4% of children in New Jersey have one or more special health care needs. Sometimes these health challenges can be caused by changes in our genes. Genetics providers help families learn whether genetic changes may explain the health conditions in their family and connect families to appropriate care.
- Genetic counseling is a process where you can learn more about genetic conditions and how they may be affecting you, your child, and your family.
- Meeting with a genetic specialist can help identify if a condition or symptom may have a genetic cause, who is at risk for inheriting these symptoms or conditions, and what genetic testing options are available.
- You may be interested in genetic counseling at various life stages, which includes planning for pregnancy, during pregnancy, childhood, adulthood, and late in life.
A genetic specialist is a medical professional that specializes in genetic conditions.
Genetic Specialists include Medical Geneticists, Genetic Counselors and Nurse Practitioners and Physician Assistants with specialization in genetics.
- Medical Geneticists are doctors that specialize in medical conditions that are hereditary or passed down through a family. They are trained to evaluate, diagnose, counsel manage, and treat individuals and families with genetic concerns and specific genetic conditions.
- Medical geneticists have a medical degree and are board certified by the American Board of Medical Genetics and Genomics (ABMGG).
- Genetic Counselors have training in medical genetics and counseling to guide and support patients who want information about their or their family’s risk for inherited diseases and conditions. They help individuals understand their genetic testing options based on their personal and family history and explain how the results of testing can impact the health of themselves and their families.
- Genetic counselors have a Master’s Degree in genetic counseling and are board certified by the American Board of Genetic Counseling (ABGC).
- The state of New Jersey also requires genetic counselors to be licensed.
- Some nurse practitioners and physician assistants take on extra training and education to increase their knowledge in the field of genetics and genomic medicine. These healthcare workers can aid genetics and genetic counselors during sessions.
A visit to a genetic specialist can be helpful are different times during your life, such as:
If you are planning for a pregnancy OR are pregnancy AND
- You or your partner have been told you have a higher chance to have a child with a health issue.
- You have a family member with a genetic condition.
- You believe your family’s medical issues could have a genetic cause.
If you have concerns about your child’s
- Speech
- Learning or development
- Movement
- Growth
- Physical features
- Digestion or feeding issues
- Behavior
- Vision
- Hearing
- Heart defects
- Complicated medical issues
If you have multiple family members with
- Unexplained sudden death
- Kidney disease
- Diabetes without typical risk factors
- Epilepsy
- Severe vision problems
- Hearing issues
- Movement disorders
- Anemias
- Unusual childhood conditions
- Complicated medical issues
If you are concerned about your family history of cancer AND have
- You or your parent, sibling, or child was diagnosed with cancer before the age of 50
- More than 3 people on the same side of your family have been diagnosed with the same type of cancer
- You or a family member has multiple tumors
- You or a family member has a rare form of cancer
Learn the Signs. Act Early.: Created by the Center for Disease Control (CDC), is a program which helps parents and guardians as well as healthcare providers, to learn the signs of healthy development for children ages birth to 5 years old. Learn The Signs. Act Early.
CDC’s Act Early Ambassador to New Jersey: Deepa Srinivasavaradan
Email: deepas@spanadvocacy.org
Phone: 609-665-2696
- At a genetics appointment, you will often meet with a genetic counselor first.
- You will be asked detailed questions about your family history, you or your child’s medical history, and your child’s developmental history.
- Often a geneticist, a doctor who specializes in genetics, will join the session to do a physical exam, which may include some unusual measurements and possibly photos for documentation.
- You will likely be offered genetic testing. The genetic counselor and geneticist are trained in both genetics and counseling, so they will work with you to help you make the best decision for you.
- Every session can be slightly different!
If you are attending a prenatal genetics appointment, the appointment will be very similar to the one outlined above. However, the genetic testing options you may be offered typically include screening tests, such as cell-free DNA testing and carrier screening, or diagnostic tests such as an amniocentesis or a CVS (chorionic villus sampling).
There are some protections in place, such as the Genetic Information Nondiscrimination Act of 2008 (GINA), which prohibits discrimination on the basis of genetic information with respect to health insurance and employment. A genetic specialist can help a patient understand the benefits and risks involved with genetic testing.
Click here for more information on GINA: https://www.ashg.org/advocacy/gina/
Click here for more information on genetic discrimination: https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination
It is important to note that there are two potential costs when seeing a genetic specialist – (1) the cost of the appointment with the genetic specialist and (2) the cost of any genetic testing the patient decides to pursue.
- The total cost of the appointment with the genetic specialist and testing depends on type of coverage the patient has.
- Insurance co-pays for specialists are typically higher than going to see a primary healthcare provider. Patients may also need to pay for “facilities fees.”
- Medicaid/Medicare covers most services with little out of pocket costs to the patient.
- The costs of testing can vary based on the type of testing done and the patient’s insurance.
- A patient or patient’s family may want to contact their insurance provider to get a better idea of the total potential costs of genetic counseling appointments and the costs associated with any potential genetic testing.
- Some patients may qualify for financial assistance programs to help cover the costs associated with genetic counseling and genetic testing.
Patients and families should also take into consideration if they will need to travel to get to their genetic counseling appointment.
- There is a limited amount of genetic counseling specialists, which means patients may have to travel far distances to their appointment(s).
- Some genetic counselors may be able to see their patients virtually.
Connecting NJ is a network created for parents, grandparents, and guardians to help families in New Jersey. They connect families to free or affordable services based on the family’s specific needs, including early childhood specialists, healthcare needs and more! Every county has its own Connecting NJ representative. Click here to learn more
Or call the Connecting NJ office in your area:
Atlantic, Burlington, Camden, and Cape May Counties: 1-800-611-8326
Bergen & Passaic Counties – 973-942-3630
Hudson & Union Counties – 201-876-8900
Morris County – 973-343-2650
Cumberland, Gloucester & Salem – 1-856-431-4180
Essex – 973-621-9157
Hunterdon, Mercer, Middlesex & Somerset Counties – 1-888-551-6217
Monmouth & Ocean Counties – 1-877-352-7843
Sussex & Warren – 1-844-807-3500
Resources for Children and Families with Genetic Conditions in NJ:
New Jersey Department of Health (DOH): The New Jersey DOH is an agency of the government of New Jersey responsible for public health issues. It works to support and improve the health and safety of all NJ residents through disease prevention, access to care, quality management, and community engagement. NJ Department of Health
Newborn Metabolic Screening The State of NJ and the Office for Genetics and People with Special Health Care Needs are dedicated to screening newborn infants for conditions that can cause serious illness, developmental delays, and even death if not detected in the first few weeks of life. Newborn Metabolic Screening
Zero to THREE : Zero to Three works to ensure that babies and toddlers benefit from the family and community connections critical to their well-being and development. Healthy connections help build babies’ brains. Zero to Three Resources for Families
NJ Division of Disability Services (DDS): The New Jersey DDs offers resources and support for families of disabilities. It specifically has resources on information and referral services, the traumatic brain injury fund, the personal assistance services program (PASP), managed long term services and supports (MLTSS) enrollment assistance for children under age 20, disability health and wellness initiatives, and NJ ABLE and NJ WorkAbility information and technical assistance. NJ Division of Disability Services
Personal Assistance Service Program (PASP): The personal assistance service program has a goal of supporting individuals with physical disabilities by providing personal assistants to help with personal care tasks. There is a cost share based on income. Personal Assistance Service Program
New Jersey Early Intervention System: This organization is for children, birth to three, with developmental delays or disabilities as well as their families. They provide resources concerning Autism, diagnoses, developmental red flags, and accessing early intervention services. NJ Early Intervention System
Disability Rights New Jersey (DRM): This non-profit organization is New Jersey’s designated Protection & Advocacy agency. It is federally mandated to advance the civil rights of people with disabilities. They provide legal services, investigate allegations of abuse and neglect, provide information and referrals for people with disabilities, and provide outreach and educational services. Disability Rights NJ
Maternal and Child Health Consortia: This is a group of private non-profit organizations that provide prevention activities, education, infant and pediatric follow-up, and other services. Each organization (north, central, and south) have resources on their sites to support pregnant women through their pregnancy. Maternal and Child Health Consortia
NJ Medicaid: The New Jersey Department of Human Services provides information on what Medicaid is and how to enroll. The site provides eligibility criteria and lays out step by step the procedure on how to apply. NJ Medicaid
New Jersey Family Care: Family care is an affordable health insurance program for children aged 18 and younger and pregnant people. These sites provide the eligibility criteria, instructions on how to enroll, and other helpful information. Family Care Registration and Family Care Information
New Jersey Relay and CapTel: New Jersey Relay and CapTel are no-cost services to enable people who are Deaf, Hard of Hearing, DeafBlind, or have a Speech Disability to make and receive phone calls. Services: Relay services, Captioned telephone, Relay conference captioning, and Speech disabled services. New Jersey Relay and CapTel
The Richard West Assistive Technology Advocacy Center (ATAC): serves as New Jersey’s federally funded assistive technology project through a sub-contract with New Jersey’s Department of Labor and Workforce Development. Its purpose is to assist individuals across New Jersey in overcoming barriers in the system and making assistive technology more accessible to individuals with disabilities throughout the state of New Jersey. The Richard West Assistive Technology Advocacy Center (ATAC)
NORD’s Caregiver Respite Program: designed for caregivers (parent, spouse, family member, or significant other) of a child or adult diagnosed with a rare disorder. The program provides financial assistance to enable the caregiver a break from caregiving. Financial assistance will be granted up to $500 annually for those who qualify. NORD’s Caregiver Respite Program
Donated Dental Care Services (NJ): The Donated Dental Services (DDS) program provides free, comprehensive dental treatment to our country’s most vulnerable people with disabilities or who are elderly or medically fragile. In addition, we support many veterans through our DDS program. These are people who cannot afford the necessary treatment and cannot get public aid. The program operates through a volunteer network of 15,000 dentists and 4,400 dental labs across the United States. Donated Dental Care Services (NJ)
NJ Parent Link: NJ Parent Link is a website that provides answers to many questions of parents regarding their children with special health care needs as well as government funded family support services. It also provides various support hotlines for parents. Parent Link
New Jersey Parents’ Caucus (NJPC): The NJPC is a family driven organization for parents and children of all backgrounds and challenges. They provide resources as well as parent support groups for raising a child with emotional, behavioral, and mental health needs. New Jersey Parents’ Caucus
Through the Looking Glass (TLG): TLG is an organization built to “provide and encourage respectful and empowering services- guided by personal disability experience and disability culture- for families that have children, parents, or grandparents with disability or medical issues”. They provide spaces for families to meet one another, Early Head Start, mental health professionals on staff, and other disability services. Through the Looking Glass
The Arc: The Arc provides resources for parents of children with autism, cerebral palsy, spina bifida, ADD, epilepsy, Down syndrome, and more. It also provides resources for community involvement, child development, individuals with disabilities, and child-care services. The Arc
New Jersey Council on Developmental Disabilities (NJCDD): This organization provides a space for families, advocates, and agencies to work together on advancing the rights and opportunities of people living with developmental disabilities in New Jersey. They also work to empower the community and people with developmental and intellectual disabilities to all participate equally in the community. NJ Council on Developmental Disabilities
Fragile X: National Fragile X Foundation- New Jersey Chapter
Down syndrome: GiGi’s Playhouse Hillsborough
Sickle Cell disease: Sickle Cell Association of NJ
