Gene Therapy vs. Genetic Screening: What Families Planning Pregnancy Should Know About Inherited Genetic Conditions

Recent reports about an experimental gene therapy for a child with a rare inherited disease have sparked conversations about genetics, inherited conditions, and the future of reproductive medicine. While gene therapy offers hope for treating some diseases after birth, many families are also asking whether there are options to better understand inherited genetic risks before pregnancy begins.

Gene therapy offers growing hope for treating certain diseases after a person has been diagnosed. However, families planning a pregnancy may also wonder whether there are ways to identify inherited genetic risks before conception or embryo transfer.

For some families, reproductive genetic counseling, carrier screening and preimplantation genetic testing for monogenic conditions, commonly known as PGT-M, may provide valuable information before pregnancy begins.

Gene therapy and reproductive genetic screening are not competing treatments or interchangeable solutions. They are different technologies used at different stages and for different purposes.

Understanding those differences can help prospective parents ask informed questions and work with qualified fertility specialists and genetic counselors.

What Is Gene Therapy?

Gene therapy refers to medical techniques that use genetic material to treat, prevent or potentially cure certain diseases. Depending on the condition and treatment, gene therapy may add a functional gene, replace a defective gene or change how a gene works within a patient’s cells.

Most current gene therapies are designed to treat people who already have a diagnosed disease. They are generally highly specialized and may only be available for particular conditions, patient groups or clinical circumstances.

Some gene therapies use modified viral vectors to carry therapeutic genetic material into cells. Because these products interact with the immune system, researchers and regulators carefully assess the possibility of immune reactions, inflammation and other treatment-related risks.

Gene therapy remains an important and rapidly developing area of medicine. However, it is fundamentally different from genetic screening performed during fertility treatment.

Why Is This Topic Receiving So Much Attention?

Recent media coverage of experimental gene therapies has highlighted both the promise and the challenges of emerging genetic treatments.

These treatments may offer new possibilities for certain serious or rare conditions, but they remain medically complex and are not suitable for every disease or every patient.

They should also not be presented as a substitute for reproductive genetic counseling or preimplantation genetic testing.

Gene therapy generally aims to treat a condition in an existing patient. By contrast, reproductive genetic screening may help prospective parents understand whether they carry certain inherited variants and, in specific circumstances, assess embryos for an already identified familial condition before pregnancy.

The purpose, timing and limitations of these approaches are very different.

What Is Genetic Screening Before Pregnancy?

Genetic screening before pregnancy can help individuals and couples learn whether they carry variants associated with certain inherited conditions.

A person can carry a recessive genetic variant without having symptoms or knowing that the variant is present. When both biological parents carry variants associated with the same recessive condition, there may be an increased chance of having an affected child.

Carrier screening may be completed before pregnancy or during pregnancy. However, professional guidance notes that screening before pregnancy gives prospective parents more time to understand their results and discuss a broader range of reproductive options.

A negative carrier-screening result does not eliminate all genetic risk, and screening cannot identify every inherited condition. Results should be interpreted with a qualified healthcare professional or genetic counselor.

What Is Genetic Counseling?

Genetic counseling is a specialized service that helps individuals and families understand:

• Their personal and family medical histories

• How a genetic condition may be inherited

• What genetic tests may be appropriate

• What test results may and may not reveal

• Which reproductive options may be available

• The emotional and practical implications of testing

Genetic counseling is particularly important when a family has a known genetic diagnosis, a previous affected pregnancy or child, recurrent pregnancy loss, or an identified disease-causing variant.

The goal is not to tell families what decision to make. It is to provide accurate, individualized information so they can make choices consistent with their circumstances and values.

What Is PGT-M?

Preimplantation Genetic Testing for Monogenic Conditions, or PGT-M, is a specialized form of embryo testing performed as part of an IVF cycle.

PGT-M may be considered when a specific disease-causing genetic variant has already been identified in one or both biological parents or within the family.

During IVF, eggs are fertilized and embryos develop in a laboratory. At the appropriate stage, a small number of cells may be biopsied and analyzed for the specific familial genetic condition for which the test was designed.

PGT-M does not repair, rewrite or edit an embryo’s DNA.

Instead, it provides information about whether an embryo is predicted to be affected by, carry or be free from the specific variant being tested, depending on the inheritance pattern and testing strategy.

The American Society for Reproductive Medicine emphasizes that PGT-M involves important clinical and technical complexities and should be supported by appropriate patient counseling and qualified reproductive genetics professionals.

What Is the Difference Between Gene Therapy and PGT-M?

Although both involve genetics, they serve very different purposes.

Gene therapy

Gene therapy is generally designed to treat, prevent or manage a disease in a person. It may involve adding, replacing or altering genetic material within the patient’s cells.

PGT-M

PGT-M is an embryo-testing process used during IVF. It assesses embryos for a particular inherited condition already identified within a family.

The key distinction

Gene therapy is a form of medical treatment.

PGT-M is a form of reproductive genetic testing.

Neither approach is appropriate for every genetic condition, and neither can eliminate all medical or reproductive risk.

Who May Be Referred for Genetic Counseling or PGT-M?

A fertility physician or genetic counselor may suggest further assessment when:

• One or both biological parents are known carriers of a genetic condition

• A family has a known disease-causing genetic variant

• A previous child or pregnancy was affected by an inherited condition

• There is a significant family history of a genetic disorder

• A chromosome rearrangement has been identified

• Carrier screening suggests that both partners carry variants for the same recessive condition

• A specialist believes that reproductive genetic testing may be medically relevant

PGT-M is not a routine test that can simply screen embryos for every possible disease. It is normally developed to assess a specific identified genetic condition.

The laboratory must first determine whether a reliable test can be created for the family’s particular variant and circumstances.

Which Conditions May Be Considered for PGT-M?

Depending on the family’s genetic findings and the laboratory’s ability to develop an appropriate test, PGT-M may be considered for certain monogenic conditions, including some cases of:

• Spinal muscular atrophy

• Cystic fibrosis

• Sickle cell disease

• Thalassemia

• Huntington disease

• Duchenne muscular dystrophy

• Hemophilia

• Tay-Sachs disease

• Fragile X syndrome

• Polycystic kidney disease

• Certain inherited metabolic, neurological, cardiac, hearing or vision conditions

This is not a complete list, and having a condition in the family does not automatically mean that PGT-M is possible or recommended.

A reproductive endocrinologist, genetic counselor and qualified PGT laboratory must assess each case individually.

Can IVF Genetic Testing Prevent All Genetic Conditions?

No.

PGT-M is designed to test for a specific monogenic condition or familial variant. It does not provide a guarantee that an embryo will be free from every genetic, developmental or medical condition.

Genetic testing also has technical limitations. Results may occasionally be inconclusive, and confirmatory prenatal testing may still be discussed after pregnancy is established.

IVF and embryo testing cannot guarantee implantation, pregnancy, a live birth or the future health of a child.

Families should be cautious of any provider claiming that embryo testing can produce a “perfectly healthy baby” or eliminate all medical risk.

Can PGT-M Test for Autism?

Most cases of autism spectrum disorder are complex and multifactorial. They are believed to involve many genetic and non-genetic influences rather than one identifiable inherited variant.

Therefore, PGT-M cannot predict or prevent most cases of autism.

Some specific genetic syndromes may include autism-related characteristics or developmental differences. When a clearly defined disease-causing variant has been identified within a family, a genetics specialist may determine whether testing for that specific syndrome is technically possible.

That is not the same as screening embryos for autism generally.

Families concerned about autism, developmental delay or a known neurological condition should speak with a clinical geneticist or genetic counselor rather than relying on generalized claims about embryo testing.

Is Carrier Screening Recommended Before IVF?

Carrier screening may be discussed before IVF because it can help identify certain inherited risks before embryos are created or transferred.

Professional guidance supports offering and discussing carrier-screening options, ideally before pregnancy, while recognizing that patients may accept or decline testing after receiving appropriate information.

The recommended testing approach may depend on:

• Personal and family history

• Previous genetic results

• Egg or sperm source

• The fertility clinic’s protocols

• Guidance from a reproductive endocrinologist

• Recommendations from a genetic counselor

Intended parents using donated eggs, donated sperm or embryos may also wish to ask what carrier screening was completed and whether additional consultation is recommended.

Questions to Ask Before Starting IVF

Before beginning IVF, intended parents may find it helpful to ask their fertility physician or genetic counselor:

Should my partner and I have carrier screening?

Ask whether carrier screening is recommended based on your medical history, ancestry, family history and reproductive plans.

Would genetic counseling benefit our family?

Genetic counseling may be especially useful when there is a known inherited condition, an uncertain family diagnosis, previous pregnancy complications or genetic test results that require further explanation.

Is PGT-M recommended for our situation?

PGT-M is generally considered when there is a known familial genetic variant or monogenic condition. A specialist can explain whether testing is clinically appropriate and technically possible.

What inherited conditions should we discuss with our doctor?

Share any known diagnoses, developmental conditions, birth defects, unexplained infant deaths, recurrent miscarriages or inherited diseases within both biological families.

What can the proposed test detect?

Ask exactly which condition or variant the test is designed to identify and what the possible result categories mean.

What can the test not detect?

Understanding the limitations is just as important as understanding the potential benefits.

Will prenatal testing still be recommended?

Patients may still be offered prenatal screening or diagnostic testing after pregnancy, even when embryos have undergone PGT.

How could the results affect our IVF timeline?

PGT-M may require test development before the IVF cycle or embryo testing can proceed. Ask about laboratory preparation, expected timelines and the possibility of inconclusive results.

Does Genetic Screening Replace Prenatal Testing?

Not necessarily.

Preimplantation testing and prenatal testing occur at different stages and provide different types of information.

Even after PGT-M or other embryo testing, a fertility physician, obstetrician or genetic counselor may recommend discussing prenatal screening or diagnostic options during pregnancy.

Prenatal genetic screening estimates the chance of certain conditions, while diagnostic procedures may provide more definitive information about specific fetal genetic or chromosomal conditions.

Patients should receive individualized guidance about which tests may be appropriate during pregnancy.

How ACRC Global Supports Intended Parents

At ACRC Global Surrogacy, we understand that IVF, genetic testing and surrogacy can involve many interconnected medical, practical, legal and emotional decisions.

ACRC Global does not diagnose genetic conditions, perform genetic testing or provide medical treatment. These services must be provided by qualified fertility clinics, physicians, genetic counselors and accredited laboratories.

Our role is to help intended parents navigate their family-building journey by coordinating with experienced professionals and supporting communication throughout the process.

Depending on the intended parents’ circumstances, this may include coordination with:

• Reproductive endocrinologists

• IVF clinics

• Embryology and genetic-testing laboratories

• Genetic counselors

• Egg or sperm donor professionals

• Gestational surrogate candidates

• Reproductive attorneys

• Insurance and escrow professionals

• International family-building support teams

For intended parents pursuing gestational surrogacy, embryos are generally created before transfer to a gestational surrogate. Any decisions regarding carrier screening, embryo testing or PGT-M should therefore be discussed with the intended parents’ fertility physician and genetic counselor as early as possible.

Early planning may help families better understand their options, expected timelines and the steps required before matching or embryo transfer.

Making Informed Decisions Before Pregnancy

Advances in genetics are expanding both medical treatment and reproductive planning options.

Gene therapy may offer hope for treating certain diagnosed conditions, while carrier screening, genetic counseling and PGT-M may help some families understand specific inherited risks before pregnancy.

However, no test or treatment can remove all uncertainty.

The most responsible approach is to seek individualized advice, understand the limitations of each technology and make decisions with qualified medical and genetics professionals.

Families considering IVF or gestational surrogacy should discuss genetic screening early in the process, especially when there is a known inherited condition or significant family history.

Speak With ACRC Global About Your Family-Building Journey

If you are exploring IVF, egg donation or gestational surrogacy, ACRC Global can help you understand the overall process and coordinate with experienced fertility and family-building professionals.

During your consultation, our team can learn more about your goals, answer questions about the surrogacy process and help you identify the medical and professional support that may be required for your journey.

Book a consultation with ACRC Global to begin exploring your family-building options.

Frequently Asked Questions

What is the difference between gene therapy and genetic screening?

Gene therapy is a medical approach that uses genetic material to treat, prevent or potentially cure certain diseases. Genetic screening assesses whether a person carries particular genetic variants or whether an embryo has a specific identified familial condition.

Does PGT-M change an embryo’s genes?

No. PGT-M tests cells from an embryo for a specific genetic variant. It does not edit or modify the embryo’s DNA.

Can PGT-M detect every genetic disease?

No. PGT-M is designed for a particular genetic condition or variant identified within a family. It cannot screen for every possible disease or guarantee the health of a future child.

Do all IVF patients need PGT-M?

No. PGT-M is generally considered when there is a known monogenic condition or disease-causing variant. A fertility physician and genetic counselor can determine whether it may be appropriate.

Is carrier screening the same as PGT-M?

No. Carrier screening usually tests prospective biological parents to determine whether they carry variants associated with certain inherited conditions. PGT-M tests embryos created through IVF for a specific familial condition.

Can genetic testing guarantee a successful IVF pregnancy?

No. Genetic testing cannot guarantee that an embryo will implant, result in pregnancy or lead to a live birth.

When should intended parents discuss genetic testing?

Ideally, intended parents should raise questions about carrier screening and genetic counseling before beginning IVF or creating embryos, particularly when there is a known family history of inherited disease.

Medical Disclaimer

This article is provided for general educational and informational purposes only. It does not constitute medical advice, genetic counseling, diagnosis or treatment and should not be used as a substitute for consultation with a licensed physician, reproductive endocrinologist, clinical geneticist or certified genetic counselor.

Genetic testing technologies, eligibility criteria, laboratory methods and professional recommendations continue to evolve. The availability, accuracy and suitability of carrier screening, PGT-M, prenatal testing and gene therapy depend on the specific condition, identified genetic variant, medical history, laboratory and individual circumstances.

ACRC Global Surrogacy is a family-building and surrogacy agency. ACRC Global does not diagnose or treat genetic conditions, perform genetic tests, operate an IVF laboratory or determine whether a particular medical procedure is appropriate. All medical and genetic decisions must be made with qualified healthcare professionals.

Mention of any disease, genetic test or treatment does not imply that testing or treatment is available, appropriate or successful in every case.

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