Genetic testing can provide peace of mind, a course or proactive treatment and, in some cases, even prevention or delay of disease onset.

You can be referred to the Medical Genetics and Genomics Program for many reasons. These may include:
  • Hereditary bleeding disorders (for example, hemophilia)
  • Hereditary blood clotting disorders (for example, Factor V Leiden)
  • Hereditary diseases of the skin, kidney, lung and eye
  • Hemochromatosis
  • Adults with Down syndrome
  • Other known genetic conditions, such as neurofibromatosis 

Depending upon the condition and your concerns, genetic testing can provide peace of mind and a course or proactive treatment and, in some cases, even prevention or delay of the onset. With the resources of the Division of Human Genetics at their fingertips, genetic counselors and physicians have access to the latest and most up-to-date tests, as well as clinical and translational research available throughout The Ohio State University Wexner Medical Center and the world.

Adult Down Syndrome Clinic

The goal of the Adult Down Syndrome Clinic of Ohio State's Division of Human Genetics and the Nisonger Center is to provide a comprehensive program of complete medical and baseline psychiatric evaluations, focusing on issues specific to adults with Down syndrome and their families. In addition, the program serves as a resource for healthcare providers who need medical information about adults with Down syndrome or help managing their medical care.

Patients undergo a comprehensive consultation with a medical geneticist and certified genetic counselor.

Along with focusing on medical problems specific to adults with Down syndrome (such as thyroid function, ear, nose and throat issues, weight and activity and cardiac and routine health care), a mini-mental examination is performed to monitor the potential development of Alzheimer’s disease.

The Ohio State University Adult Down Syndrome Clinic staff meets with the individual, family members and care providers. The clinic meets on the second Monday of the month. Following the appointment, a report with recommendations is sent to the referring physician, patient and family. 

Appointments are scheduled at the Polaris Innovation Centre, 2001 Polaris Parkway, Columbus, Ohio 43240. To refer a patient, make an appointment or obtain more information, call 614-293-6694.

Frequently asked questions

Frequently asked questions

The Medical Genetics Program will work closely with your physicians, providing them with detailed summaries of our risk assessment and recommendations for risk reduction and disease prevention based on your family history and genetic test results.

Why should someone be referred to The Ohio State Medical Genetics and Genomics Program?

You may have a diagnosis with a condition that is suspected of being hereditary or be someone who:

  • Wants to know more about the role of heredity for a condition that has affected themselves or family member(s)
  • Is concerned about both their risk and their children’s risk based on their family history
  • Has been diagnosed with a condition at an unusually young age
  • Has been diagnosed with a condition when there are no obvious risk factors
  • Has both parents affected by the same condition
  • Has two or more close relatives on the same side of the family with the same condition
  • Has at least one close relative diagnosed with a condition at an unusually young age

What can I expect to learn?

During your visit, you will find out about:

  • The level of risk to you and family members
  • The medical implications of the potentially hereditary condition
  • Genetic testing, including its benefits and limitations
  • Options for prevention, screening or treatment for the potentially hereditary condition

What will happen during my visit?

The initial appointment usually lasts approximately one to two hours. You will meet with both a genetic counselor and a doctor who specializes in genetics. We will discuss your medical history as well as construct a detailed family history, asking questions about your children, siblings, parents, aunts, uncles, grandparents and other extended relatives. Depending on what condition runs in your family, the physician may perform a physical exam as part of the risk assessment.

We will help you understand the role heredity (genetics) plays in the condition as well as the chances that you and other family members could develop it. We will also discuss whether genetic testing is available and appropriate for you and family members.

What are the benefits of genetic testing?

You and your family will learn ways to reduce your risk of getting the condition, to detect the condition early or treat the condition if you develop it. We also will offer you and your family psychosocial support and education.

What is involved in genetic testing?

Most genetic testing is done by having your blood drawn and generally begins with a family member who has the condition in question. Testing can be done the day of your appointment if you wish. There will also usually be a follow-up appointment to discuss your test results.

How can I determine if genetic testing is right for me and my family?

We will assist you and your family in making the decision by discussing advantages, disadvantages and feasibility. We will address any concerns, such as cost and insurance coverage, as well as the possible benefits for you and your family.

Will my insurance cover my visit?

We participate with most health insurance companies. Our services are often covered like any other specialist's services. However, every insurance plan is different. Some insurance plans require a referral from your doctor.

If you wish, we can work with your insurance company to help determine your coverage. We can also assist you in enrolling in research studies, if there is not yet a genetic test available for the condition in your family.

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