Genetics plays a powerful role in fertility, pregnancy, and lifelong health. But when you're trying to understand genetic risks—whether you're preparing for pregnancy, navigating IVF, or concerned about inherited conditions—you may come across two specialists with similar titles: reproductive geneticists and medical geneticists.

Although both focus on genetics, their roles, training, and areas of expertise are very different. Knowing which specialist you need can make a major difference in your care and in the future health of your family.

What Is a Reproductive Geneticist?

A reproductive geneticist focuses exclusively on genetics related to fertility, conception, embryos, and early pregnancy. Their primary goal is to help individuals or couples prevent passing genetic conditions to their children.

What They Do

Reproductive geneticists work closely with people who are:

• Planning to conceive
• Undergoing IVF or fertility treatment
• Experiencing recurrent miscarriage
• Concerned about genetic risks affecting future pregnancy
• Navigating hereditary cancers or familial genetic disorders

They often perform genetic testing before conception or during the IVF process to reduce the risk of passing genetic disorders to the next generation.

Their Scope of Practice Includes:

✔ Preimplantation Genetic Testing (PGT)

Testing embryos during IVF to ensure they are free of specific genetic conditions before transfer.

✔ Carrier Screening

Checking whether a couple carries genetic mutations that could affect their children (e.g., cystic fibrosis, Tay-Sachs).

✔ Recurrent Pregnancy Loss Workups

Investigating whether genetics are contributing to multiple miscarriages—even when fertility is otherwise normal.

✔ Counseling for Hereditary Cancer and Genetic Disorders

Helping families with a strong history of breast cancer, colon cancer, or inherited diseases protect the health of their future children.

✔ Diagnosing the Genetic Cause of Familial Disorders

Determining which gene mutation is present so the couple can make informed reproductive decisions.

Example Situations

• A couple with a family history of cystic fibrosis wants to ensure their embryos are unaffected before implantation.
• Parents with repeated miscarriages want to understand if a chromosome issue is involved.
• An individual with a hereditary cancer gene wants to prevent passing it to their future children.

Reproductive geneticists are specialists in preventing genetic conditions in the next generation.

What Is a Medical Geneticist?

A medical geneticist focuses on diagnosing and managing genetic conditions in individuals of all ages—infants, children, and adults. Their work is not limited to reproduction and often involves long-term medical care.

What They Do

Medical geneticists work with patients who:

• Have a known or suspected genetic disorder
• Show symptoms of developmental, neurological, or metabolic conditions
• Need evaluation for hereditary diseases
• Require management plans or resources for ongoing genetic conditions

Their work focuses primarily on treatment and diagnosis after birth.

Their Scope of Practice Includes:

✔ Diagnostic Genetic Testing

Identifying genetic conditions such as muscular dystrophy, sickle cell disease, or chromosomal syndromes.

✔ Management of Genetic Disorders

Developing long-term care plans and coordinating with specialists such as neurologists or oncologists.

✔ Genetic Counseling Across the Lifespan

Helping individuals understand their risks and treatment options.

✔ Prenatal Genetic Support

Helping pregnant women understand risks if a genetic condition is suspected.

Example Situations

• Diagnosing a child with a suspected genetic syndrome.
• Managing care for an adult with Huntington’s disease.
• Counseling a family with a history of inherited cancer or blood disorders.

Medical geneticists support people who already have or may develop a genetic condition.

Key Differences Between Reproductive Geneticists and Medical Geneticists

Understanding the distinctions can help you choose the right specialist for your needs:

1. Focus Area

• Reproductive Geneticist: Prevents genetic disorders in future children; focuses on conception and embryo health.
• Medical Geneticist: Diagnoses and manages genetic diseases in individuals throughout life.

2. Patient Population

• Reproductive Geneticist: Couples or individuals seeking to conceive.
• Medical Geneticist: Patients of all ages—from newborns to elderly adults.

3. Types of Testing

• Reproductive Geneticist: PGT, PGD, carrier screening, embryo testing during IVF.
• Medical Geneticist: Broad diagnostic testing for genetic syndromes, cancer predispositions, blood disorders, metabolic conditions, and more.

Why This Distinction Matters for Your Fertility Journey

If you’re trying to prevent passing a genetic condition to your children, optimize IVF outcomes, or understand why pregnancy has been difficult, a reproductive geneticist is the specialist trained to support you.

This is why patients working with Dr. Foyouzi—who specializes in reproductive genetics and fertility—receive both advanced fertility care and advanced genetic guidance, ensuring the healthiest possible path to parenthood.

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