General Genetics Program

Comprehensive Genetic Counseling at St. Elizabeth

At St. Elizabeth, we’re dedicated to making genetic services accessible to our community. Our experienced genetic counselors provide personalized care for individuals with known or suspected genetic conditions—even beyond our traditional specialty clinics.

Your health journey is unique, and we’re here to help you navigate it with clarity and confidence.

Common reasons for referral to our general genetics’ clinic may include:

  • A known family history of a specific genetic condition
  • A family history of a condition that may have a genetic basis (e.g. cardiovascular disease, chronic kidney disease, hemochromatosis, thrombophilia etc.)
  • A physician recommendation for genetic testing based on suspicion of a specific condition
  • Abnormal or uncertain genetic test results
Two associates discuss information on a computer screen.

Contact A Genetic Counselor

Phone:
859-301-GENE (4363)

Fax:
859-301-4924

Email:
[email protected]

Common General Genetic Referral Indications

Below is a list of common indications for general adult genetic counseling. Each general adult referral is reviewed to determine if genetic counseling and/or testing is appropriate. This is a list of conditions we commonly see, but other referrals may be accepted as well.

  1. Hereditary hemochromatosis
  2. Hereditary thrombophilia (Factor V Leiden, Prothrombin, etc.)
  3. Alpha-1 antitrypsin deficiency
  4. Pancreatitis
  5. Hereditary hemorrhagic Telangiectasia (HHT)
  6. Hypophosphatasia
  7. Sex chromosome abnormalities (Turner syndrome, Klinefelter syndrome, etc.)
  8. Maturity-onset diabetes of the young (MODY)
  9. Primary hyperparathyroidism
  10. Kidney disease
  11. Primary ovarian insufficiency (POI)/ early menopause/ amenorrhea
  12. Patients with a clinical diagnosis of a condition known to have a genetic etiology
  13. A family history of a condition with a known genetic etiology

Finding Genetic Services

We recommend starting by talking with your doctor about your concerns. They can place a referral to our clinic. Each referral is reviewed to make sure it is appropriate and that we can meet your care needs.

While we do not have a medical geneticist on‑site, our team is dedicated to providing high‑quality guidance and support. When needed, we may recommend referral to a partner institution with a medical geneticist or other specialists for additional expertise.

If you are coming in because a family member has tested positive for a genetic condition, please send a copy of their test report to [email protected] before your appointment. If you’re unable to obtain the report, we can still meet to review your family history and discuss the next steps.

What to Expect at Your Appointment

During your appointment, your genetic counselor will:

  • Review your personal and family health histories to look for patterns that may suggest a genetic condition or inherited risk.
  • Discuss whether genetic testing is recommended or available, and explain what testing can—and cannot—tell you. In some cases, testing may not be appropriate, necessary, or helpful, and your counselor will explain why.
  • Review insurance considerations and legal protections related to genetic information, such as privacy laws and workplace protections.
  • Talk through your questions and goals to help you understand your options and next steps, whether or not testing is part of your plan.

If genetic testing is recommended and you choose to move forward, your counselor will explain the process and help coordinate sample collection (such as blood or saliva).

Frequently Asked Questions

A precision medicine appointment is a conversation with a trained genetics or precision medicine provider. They help you understand how your personal health history, family history, and, sometimes how you respond to medications may affect your overall health. During the visit, your provider will offer clear information, answer your questions, and discuss whether genetic testing may be helpful for your health or ongoing care. The goal is to give you the knowledge and support you need to make informed, confident decisions about your care.
To get the most out of your visit, it can be helpful to:
  • Gather information about your family’s health history, such as any major medical conditions or patterns that you’re aware of.
  • Ask family members if they have had any type of genetic testing. If copies of their test reports are available, bringing them—or sharing them with your care team ahead of time—can be very helpful.
  • Write down any questions or concerns you’d like to talk about during your appointment.
Don’t worry if you don’t have every detail about your family history. Even general information gives your provider a useful starting point to understand patterns that may relate to your health.
During your appointment, you’ll meet with a genetics or precision‑medicine provider who will walk you through information that’s personalized to your health. You can expect:
  • A review of your personal and family health history to look for patterns that may be important.
  • A discussion about how genetic testing may impact your care, including what might be helpful to know and why.
  • Clear explanations of any recommended testing—what it can and can’t tell you, possible outcomes, and how results may guide your health decisions.
  • Time to ask questions, share concerns, and talk through your goals and preferences.
  • A plan for next steps, which may include testing, follow‑up appointments, or coordination with other members of your care team.
Overall, the appointment is designed to be a conversation—informative, supportive, and tailored to your needs—so you can feel confident about your health decisions.
At St. Elizabeth Healthcare, we strive to offer state-of-the-art testing at a reasonable cost. The cost of genetic testing will be discussed during your visit. Insurance companies are increasingly supporting genetic testing, and many genetic testing labs offer financial assistance.
Yes. If you are considering genetic testing or counseling, we recommend starting by discussing your concerns with your physician so they can place a referral to our clinic. Every referral is carefully reviewed to ensure it is appropriate and that we can provide the best care for your situation.

If genetic testing is not indicated, or if we believe you would benefit from evaluation at a center with a medical geneticist, we will communicate this clearly to both you and your provider.

Our clinic focuses on cases where there is a specific genetic diagnosis suspected, a known family history of a genetic condition, or abnormal genetic test results.

Most health conditions are not caused by a single gene. Instead, they result from a complex interaction of genetic, environmental, and lifestyle factors. Symptoms like fatigue, pain, or other generalized symptoms can have many possible causes—both genetic and non-genetic. Genetic testing alone cannot provide a complete evaluation for these concerns.

In addition, our clinic is staffed by board-certified genetic counselors, but we do not have a specialist physician on site. This means we are unable to perform physical examinations or make clinical diagnoses.

We do not offer nutrigenomics or methylation testing for nutrition or supplement recommendations. These tests are often marketed for personalized nutrition or wellness, but they currently lack strong scientific evidence and are not recommended by major genetics organizations for clinical use. Results from these tests do not provide actionable medical information and are not considered part of standard genetic care.

Currently, there is no single genetic test that can diagnose autoimmune conditions such as lupus, rheumatoid arthritis, or multiple sclerosis. These conditions are complex and typically result from a combination of genetic, environmental, and lifestyle factors rather than one specific gene.

While certain genetic variants may increase risk for some autoimmune disorders, these findings are not diagnostic and are rarely used in routine clinical care. If you have a strong family history or an autoimmune condition with a known associated gene, our genetic counselors can review your history and discuss whether genetic testing might be appropriate.

We know the MTHFR gene is a common topic of discussion. However, leading organizations such as the American College of Medical Genetics (ACMG) recommend against testing for MTHFR, as research shows it is not proven to be associated with disease and does not provide useful clinical information.

Have questions? Our genetic counselors are happy to provide additional information if you’d like to learn more.

*If there is concern for vascular EDS—such as arterial or organ rupture or dissection—genetic testing may be appropriate. Our team can guide you through next steps.

Hypermobile EDS (hEDS) is the most common form of Ehlers-Danlos Syndrome. Currently, there is no genetic test for hEDS, and diagnosis is based on a detailed clinical exam. Because we do not have a physician on staff, we are unable to perform these exams.

Specialized clinics are available but wait times can be long. For a list of EDS healthcare professionals, visit the Ehlers-Danlos Society Directory.

Many companies offer genetic testing directly to consumers without a doctor’s order. While convenient, these tests are often not medical grade, may lack regulatory oversight, and results are frequently inaccurate.

For these reasons, we do not interpret or use direct-to-consumer results to guide medical care.

Concerned about your results? We’re happy to review your personal and family history and discuss whether clinical genetic testing is recommended for you.

Contact A Genetic Counselor Today

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Contact your primary care provider to learn more or call our Precision Medicine and Genetics team.

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Our office is located in the Edgewood Cancer Center.