Genetic Center

The Genetic Center helps individuals and families determine the causes or inheritance of birth defects, developmental differences and other conditions including cancer. Services may include evaluation, testing, diagnosis, risk assessment, counseling, information and support.

Genetic services may be appropriate for your family if you have:

• A known genetic condition
• Unexplained intellectual disability, developmental delays, learning disabilities or autism spectrum disorder
• Birth defects or congenital anomalies
• Multiple unexplained physical problems or unusual features
• A family history raising concern of a genetic condition

Adult Services

We provide adult genetic services for a wide range of reasons including follow-up for adults with genetic conditions diagnosed in childhood, or evaluation of adult onset genetic conditions or birth defects, and other physical and mental conditions of unknown cause. In addition, genetics is playing an increasing role in risk assessment and risk reduction for common disorders such as diabetes, hypertension and heart disease.

A genetics evaluation includes a detailed medical and family history, physical exam and discussion of possible diagnosis and testing options.

Adults who may benefit include those with:

• Known genetic conditions, such as Marfan syndrome, neurofibromatosis and polycystic kidney disease
• Adult-onset genetic conditions, such as hemochromatosis, neurodegenerative disorders like Huntington disease and certain cardiomyopathies or arrhythmias
• Birth defects and/or intellectual disabilities without an underlying diagnosis
• Family histories of known or suspected genetic diagnoses

Preconception and Prenatal Services

We provide preconception (before pregnancy) and prenatal (during pregnancy) services in collaboration with Akron Children’s Maternal Fetal Medicine Center for individuals or couples who want to learn more about their chances of having a baby with a birth defect, developmental difference or genetic condition.

Although most babies are born healthy, some couples have a higher chance of having a baby with a birth defect or genetic condition. We tailor our services for people who want to learn about the impact of their personal risk factors and family medical history. We will:

• Review relevant medical, lifestyle, family, reproductive histories and prior test results
• Discuss screening/diagnostic testing options and strategies to improve the likelihood of a healthy pregnancy
• Provide educational materials and resources
• Provide information in a supportive, non-directive manner so individuals can make decisions consistent with their personal values

The best time to seek this information is prior to pregnancy.

Pediatric Services

We provide pediatric genetic services for families whose child has a known or suspected genetic condition. A pediatric genetics evaluation includes a detailed family and medical history, thorough physical exam, testing and discussion of possible diagnoses and management options.

Pediatric genetic services can benefit children with:

• Known genetic conditions
• Abnormal results on newborn screening tests
• Developmental delays, intellectual disabilities or autism spectrum disorders
• Unexplained vision or hearing loss
• Multiple unexplained physical problems, birth defects or unusual features
• A family history that raises concern about a genetic condition

The first appointment in genetics will take about 1.5 hours. If the person who is referred is a child, they must come to the visit. You should bring any relevant outside medical records with you. You may also fax your medical records ahead of time to 330-543-3677. If you fax records please write the patient’s name, date of birth, and genetics appointment date on the cover sheet. A detailed family history will also be obtained at your visit and so you may want to talk with family members and gather this information before the appointment.

You may meet with several healthcare providers during your visit. These providers may include a nurse, genetic counselor and/or a genetic physician or nurse practitioner, and possibly a metabolic dietitian depending on the reason for the visit.

It is important to note that a visit in genetics involves more than simply having genetic testing. A full assessment will be completed and will include a detailed medical and family history, a review of relevant outside medical records, and depending on the reason for the visit, a complete physical exam. The genetics provider will discuss possible diagnoses, provide genetic counseling, and make recommendations about next steps. Next steps may include referrals to other specialists, x-rays or other imaging, laboratory testing, and/or genetic testing.

A follow-up visit is frequently needed when genetic testing results return. Your genetics provider will review the results and discuss next steps. Any necessary additional tests or evaluations will be ordered, and a care plan will be made.

Parent to Parent USA (national and Ohio support groups)

Family Voices (national and Ohio presence)

MyGene2 (portal for families with a similar condition to connect)

GenomeConnect (registry to connect with others who have a similar condition)

February 29: 11 a.m.-4 p.m.

An afternoon for genetic and metabolic patients, family members and caregivers, as well as health care providers and research professionals to raise awareness and support for the 300 million people living with rare diseases.

Topics for the day will include:

• Keynote address – Neurodevelopmental differences: genetics, resources and strategies.
• Interactive patient panel – The common unique journey.
• Research in rare diseases.
• Rare disease trivia. (with a prize)

Contest winner’s personal experience entry will be shared.
 
In-person guests will be provided lunch and be able to visit booths with information on local resources.
 
Contest: Virtual and in-person attendees can enter a contest to share a written story, poem, picture or short video clip about their personal experiences with a rare disease diagnosis, including struggles and/or accomplishments. Those who participate have a chance to win a prize, and have their entry shared during the event. Email your contest entry to geneticsforms@akronchildrens.org

Register for the in-person event here.

Register for the virtual event here.