GENETIC CARRIER SCREENING AND DONOR ELIGIBILITY IN NY: A GUIDE FOR CLINICS AND PATIENTS

New York State law imposes specific genetic carrier screening requirements for reproductive tissue donors, aimed at protecting future offspring from hereditary diseases. In particular, NYS Department of Health (DOH) Subpart 52-8.6(h) mandates targeted carrier testing based on a donor’s ethnic background and family history.This comprehensive article breaks down the requirements for all donor types (anonymous, directed, client-depositor), how race/ethnicity and family history guide required tests, and how clinics are expected to implement expanded carrier screening policies. We also compare NYS regulations to national guidelines (ACOG, ASRM, ACMG) and FDA rules, and evaluate common commercial carrier panels (e.g. Natera’s Horizon, Myriad’s Inheritest, Fulgent’s CarrierMap) used in donor eligibility determination. The goal is an accessible yet rigorous overview for clinicians and patients alike, optimized for key topics like “genetic carrier screening,” “NYS DOH Subpart 52-8,” “reproductive tissue donor eligibility,” and “expanded carrier screening guidelines.”

Donor Types and Applicability of Screening Regulations

Reproductive tissue donors can include: (1) Anonymous donors – those donating sperm or oocytes to unknown recipients; (2) Directed donors – those who donate to a specified recipient (e.g. a friend or relative); and (3) Client-depositors – individuals who bank their own gametes or embryos for personal or partner use.Under NYS DOH rules, donor screening requirements generally apply to any situation where gametes or embryos are used in someone other than the provider or their intimate partner.

Anonymous donors: All anonymous (unrelated) donors must undergo full donor eligibility screening and testing per Subpart 52-8, including both infectious disease tests and genetic carrier screening. These donors provide reproductive tissue to the general pool, so rigorous precautions are required.
Directed donors: Directed donations (e.g. a sister donating eggs or a friend donating sperm to a known recipient) are also subject to screening under NYS law. The same panels for infectious and genetic tests apply. If a directed donor has a risk factor or carrier status, the recipient’s informed consent is crucial. (Notably, NYS regulations prohibit using donors with high-risk infectious disease factors for anonymous donation; in directed cases, exceptions require documented informed consent.)
Client-depositors: If reproductive tissue is stored for self-use or use by one’s regular partner (e.g. a man banking sperm before cancer therapy for use with his spouse), the client-depositor exception means many donor rules do not apply since no third-party recipient is involved. However, if that tissue will be used in a third-party (e.g. a gestational surrogate), it no longer qualifies as a private use. In NY, a couple providing their own sperm and egg to a surrogate is effectively treated as making a “donation” to another individual (the surrogate) – thus all donor eligibility screening and testing requirements apply to their gametes/embryos. In practice, this means intended parents in a surrogacy arrangement must undergo the same infectious and genetic screening as anonymous donors. Furthermore, if any client-deposited tissue is later released for use by others, the full donor evaluation must be done (with a quarantine period for certain tests)..

Summary: In NYS, any reproductive tissue that will be used by someone other than the source or their intimate partner is subject to Subpart 52-8 rules. Anonymous and directed donors must meet all donor qualification standards (medical/genetic history screening and lab tests).. Client-depositors using a surrogate or otherwise donating their stored tissue become “donors” under the law, triggering these same requirements. This ensures uniform protection for recipient families regardless of donor type.

NYS DOH Subpart 52-8.6(h) – Genetic Carrier Screening Requirements

Under 10 NYCRR 52-8.6(h), New York explicitly requires reproductive tissue donors to be tested for certain genetic carrier states if their background indicates elevated risk.The regulation states:

“Reproductive tissue donors who, based on their racial/ethnic background or family history, have been identified at increased risk of being carriers of Tay–Sachs disease, thalassemia, cystic fibrosis and/or sickle cell disease shall be tested for such carrier states.”.

In other words, the law pinpoints four heritable diseases – Tay–Sachs, thalassemias, cystic fibrosis (CF), and sickle cell anemia – as conditions for which targeted genetic screening is mandatory if a donor’s ancestry or pedigree suggests higher carrier risk. For example:

A sperm or egg donor of Ashkenazi Jewish heritage must be tested for Tay–Sachs disease (a deadly neurodegenerative disorder) because that population has an elevated carrier rate.. Similarly, donors with French-Canadian or Cajun ancestry (who also have increased Tay–Sachs incidence) should be screened.
Donors of African or African-American descent must be screened for sickle cell disease (Hemoglobin S) carrier status, since sickle cell trait is common (≈1 in 10–12 African Americans). They should also be evaluated for thalassemia trait, as certain thalassemias occur in African and African-descended populations.
Donors of Mediterranean, Middle Eastern, or South Asian ancestry are at risk for thalassemias (inherited anemias). Beta-thalassemia carriers are more frequently found among individuals with roots in Italy, Greece, the Middle East, India/Pakistan, etc., and alpha-thalassemia traits are prevalent in Southeast Asian, Southern Chinese, and some Middle Eastern groups.. These donors must have appropriate hemoglobinopathy screening.
Donors of Northern European (non-Hispanic white) background should be tested for cystic fibrosis mutations, as CF carrier frequency is highest in this group (about 1 in 25). (In fact, CF screening is now recommended for all donors regardless of ethnicity, as discussed later – but NYS explicitly flags those of Caucasian or Ashkenazi descent as high risk.)
Any donor with a family history of one of the above conditions (e.g. a relative with CF or sickle cell disease) must be tested, even if the donor’s ethnic group is not usually high-risk. Family history of other serious recessive diseases would likewise prompt targeted screening (see below).

This risk-based testing mandate is unique – most other jurisdictions do not legally require genetic tests for donor carriers, focusing only on infectious disease. NYS’s rule goes a step further to “safeguard the health of resulting offspring by minimizing hereditary disease transmission”. Importantly, Subpart 52-8.6(h) does not automatically exclude donors who are found to be carriers; it simply requires identifying these carrier states. In practice, if a donor tests positive as a carrier, the bank or clinic can proceed with that donor provided thatproper counseling and precautions occur (for example, ensuring the recipient or the other gamete provider is not a carrier of the same condition).. The ASRM guidelines affirm that heterozygous carriers of autosomal recessive conditions, with no health effect on carriers, need not be excluded as donors. Instead, recipients are informed and complementary partner testing is advised to avoid conceiving an affected child.

In summary, NYS DOH 52-8.6(h) obligates reproductive tissue banks to perform ancestry-based genetic screeningfor key recessive disorders. If a donor belongs to an ethnic/familial group known for Tay–Sachs, thalassemia (α or β), sickle cell, or cystic fibrosis, the donor must be tested for those conditions.This ensures that risks of passing on these severe diseases are identified upfront.

Racial/Ethnic Background and Family History – What to Test For

Which genetic tests a donor needs depends on their heritage and pedigree. NYS regulations set the four core conditions, but also require that each tissue bank develop a policy covering “any other conditions that should be tested for, the testing to be performed on donors with particular racial/ethnic backgrounds and family histories, and the analytes to be tested”.In practice, this means a medical director (with a medical advisory committee) must translate broad guidelines into a list of specific screenings for each donor profile. Below is a comprehensive table of common ethnic backgrounds/family risk factors and the corresponding genetic carrier tests recommended:

Donor Ancestry or Risk Factor	Genetic Disease(s) for Carrier Screening
Ashkenazi Jewish(Eastern/Central European Jewish)	Tay–Sachs disease: Mandatory Hexosaminidase-A carrier test. Also recommended: Screen for other Ashkenazi-associated disorders such as Canavan disease, familial dysautonomia, Bloom syndrome, Fanconi anemia, Gaucher disease, etc., as these conditions have elevated carrier frequencies in this population. ACOG/ACMG guidelines encourage an Ashkenazi panel covering these diseases.)
French–Canadian(Quebec) or Cajun ancestry	Tay–Sachs disease: Test for Tay–Sachs carrier status (these populations carry some of the same HEXA mutations found in Ashkenazi Jews).
Non-Hispanic White(Northern European descent)	Cystic Fibrosis (CF): CFTR gene mutation panel recommended. (Carrier frequency ~1 in 25 in Caucasian populations, including Ashkenazi; NYS flags these donors for required CF testing. Modern practice now offers CF carrier screening to all ethnicities, but it’s especially critical in individuals of European descent.)
African or African-American(Black)	Sickle Cell Disease: Hemoglobin S carrier testing (e.g. hemoglobin electrophoresis) required. Sickle cell trait is most prevalent in people of sub-Saharan African heritage (≈8–10% carry one HbS gene). Thalassemia: Complete blood count (CBC) and electrophoresis to detect β-thalassemia trait is recommended as well, since beta-thalassemia mutations occur in African and Afro-Caribbean populations. (Alpha-thalassemia trait is also found in African ancestry; see “Southeast Asian” below.)
Caribbean (West Indian)or Latin American(Hispanic of relevant ancestry)	Hemoglobinopathies: Individuals from the Caribbean or parts of Latin America often have mixed African, European, or indigenous ancestry. If there is African or Mediterranean lineage, screen for sickle cell trait and thalassemia. For example, sickle cell disease occurs in about 1 in 400 African-American births and is also seen in Caribbean populations. Beta-thalassemia mutations are found in some Hispanic groups (especially of Mediterranean or Middle Eastern descent). In short, apply hemoglobinopathy screening to Hispanic donors if their family origin includes regions at risk (Africa, Mediterranean, Middle East, South Asia).
Mediterranean(Italian, Greek, Cypriot, Southern Italian/Sicilian, etc.)	β-Thalassemia: Carrier testing indicated (e.g. CBC indices and DNA if needed). Beta-thalassemia (“Mediterranean anemia”) is historically common in these groups. Sickle cell: Also consider sickle cell screening, as the sickle gene is present in some Mediterranean areas (e.g. parts of Greece, Sicily, Cyprus have β^S allele prevalence).
Middle Eastern(Arab, North African, Persian, Turkish)	β-Thalassemia: Test for beta-thalassemia trait – numerous mutations are prevalent from the Middle East through South Asia. Sickle cell: certain Middle Eastern regions (e.g. the Arabian Peninsula) have notable sickle cell trait frequencies, so HbS screening may be appropriate depending on the donor’s specific country/ethnicity.
South Asian(Indian, Pakistani, Bangladeshi, Sri Lankan)	β-Thalassemia: High prevalence in the Indian subcontinent; carrier screening for beta-thalassemia is essential. For example, some regions of India have carrier rates of 5–15%. Sickle cell: India also has communities with sickle cell trait (central/eastern India); if donor’s community is known for sickle cell, include HbS testing. (Hemoglobinopathy screening via CBC/electrophoresis will catch both sickle trait and thalassemias.)
Southeast Asian (Thai, Vietnamese, Malaysian, Indonesian, Filipino) and Southern Chinese (e.g. Guangdong, Hong Kong)	α-Thalassemia: Carrier screening strongly recommended. Alpha-thalassemia trait (microcytic anemia) is very common in Southeast Asia and southern China. Couples carrying certain alpha-thal deletions (–/αα in cis) are at risk of having a fetus with Hemoglobin Bart’s hydrops fetalis, a fatal condition. Donors from these backgrounds should have DNA-based alpha-thalassemia testing if CBC shows low MCV and iron deficiency is ruled out. (Beta-thalassemia is also found in Southeast Asia, but alpha-thal is a particular concern in this group.)
East Asian(Japanese, Korean, Northern Chinese)	These populations have lower frequencies of the above recessive disorders. However, alpha-thalassemia trait does occur in parts of China and occasionally in Japan. If a donor has ancestry from a region with known carrier frequencies (e.g. southern China – see above), screen accordingly. (In general, pan-ethnic expanded panels are now used, so even donors from historically “low-risk” East Asian groups will be screened for common mutations, albeit detection rates may be lower.)
Family history of a specific genetic disorder	Any known familial condition: If a donor has a first- or second-degree relative with a genetic disease (or known carrier status), targeted screening for that condition is indicated.For example, a donor with a niece who has Fragile X syndrome or a family history of muscular dystrophy should be offered appropriate genetic testing, even if not otherwise mandated. NYS specifically notes that family history consistent with Tay–Sachs warrants screening regardless of ethnicity, and the same principle applies broadly. Donors with personal or family history of other inherited disorders (e.g. a history of cystic fibrosis in the family, or known carrier of spinal muscular atrophy in a sibling) should undergo testing for those conditions.

Sources: The above recommendations synthesize NYS law., ACOG/ACMG guidelines, and population genetics data. ACOG emphasizes ethnicity-based screening for Tay–Sachs in Ashkenazi, French-Canadian, or Cajunindividuals.; routine CF and SMA screening for all; and universal hemoglobinopathy screening (CBC for all pregnant patients, with electrophoresis if mean cell volume is low or ethnicity suggests risk). Alpha-thalassemia trait is noted as common in Southeast Asian, African, and Mediterranean groups., whereas beta-thalassemia is prevalent in Mediterranean, Middle Eastern, South Asian, and some Hispanic/West-Indianpopulations. These guidelines dovetail with NYS’s requirement to test at-risk donors for Tay–Sachs, sickle cell, thalassemias, and CF.

It’s important to note that modern practice is trending away from strict ethnicity-based testing toward broader panels. Many fertility programs now offer expanded carrier screening (ECS) to all donors, covering hundreds of recessive genes regardless of reported ancestry. This approach acknowledges that our populations are multi-ethnic and that relying solely on self-identified ethnicity can miss carriers (rare mutations can appear in any group, and people may not know all branches of their heritage).. NYS regulations accommodate this by not limiting testing to the four named diseases – instead, they explicitly task the Medical Director and Medical Advisory Committee of each bank to establish additional screening policies.We discuss this process next.

Role of the Medical Director and Advisory Committee: Expanded Screening Policies

NYS DOH Subpart 52-8.6(h) not only sets minimum required tests, but also directs each reproductive tissue bank’s leadership to be proactive about expanding screening. Specifically, “the reproductive tissue bank medical director, in consultation with the medical advisory committee, shall establish a policy specifying any other conditions that should be tested for, the testing to be performed on donors with particular racial/ethnic backgrounds and family histories, and the analytes to be tested for.”.

In practice, this means that beyond Tay-Sachs, CF, sickle cell, and thalassemias, each program must decide which additional genetic screenings are appropriate for their donor population. The Medical Director, typically a physician (often a pathologist or reproductive endocrinologist) responsible for the tissue bank, working with a Medical Advisory Committee (a group that may include genetic specialists, physicians, lab directors, etc.), should:

Review current genetics guidelines (from bodies like ACOG, ASRM, ACMG) and epidemiological data to determine what other recessive diseases are important to screen. For example, since NYS last updated the regulation, spinal muscular atrophy (SMA) has become a standard part of carrier screening for all prospective parents.A Medical Director would likely include SMA carrier testing for all sperm/oocyte donors as a policy, even though SMA is not named in the law.
Define screening by donor category: The policy may say, for instance, “All oocyte and sperm donors will be screened for CFTR (cystic fibrosis), SMN1 (spinal muscular atrophy), and hemoglobinopathies (CBC with reflex electrophoresis). Donors of Ashkenazi Jewish descent will additionally have an Ashkenazi panel including Tay–Sachs, Canavan, familial dysautonomia, etc. All female donors will be evaluated for Fragile X risk, with FMR1 DNA testing if indicated by family history or ovarian function.” These specifics ensure consistency in how donors are evaluated.
Stay updated: The committee should regularly update the panel as new tests become available or standards change. For example, if ACMG introduces a new recommended condition for universal screening, the policy should be revised accordingly. (Indeed, NY’s regulation was amended effective March 2024., reflecting evolving standards.)
Documentation and oversight: The policy needs formal approval and should be documented in the tissue bank’s Standard Operating Procedures. NYS inspectors or the Wadsworth Center (which oversees tissue bank licensing) may review these policies to ensure they meet state expectations. Essentially, the state entrusts the Medical Director to go beyond the bare minimum and craft a screening strategy that reflects “best practices” and protects recipients.

Expanded Carrier Screening – From Policy to Practice

Expanded carrier screening (ECS) refers to testing a person for a broad panel of genetic disorders, typically dozens or even hundreds of recessive (or X-linked) conditions at once.The rationale is to cast a wide net, catching rare carriers that ethnicity-based screening might miss. NYS doesn’t explicitly mandate an ECS panel for donors; however, by requiring a policy for “any other conditions”., it signals that using a thoughtful expanded panel is advisable.

Many NY clinics have indeed implemented pan-ethnic expanded panels as their standard for donor screening. The ASRM’s latest guidance recommends pan-ethnic expanded carrier screening over ethnicity-based tests for gamete donors, given the limitations of self-reported ancestry and the goal of maximizing detection of risk. The ASRM Practice Committee (2021) explicitly states: “Screening for cystic fibrosis, spinal muscular atrophy, and thalassemia/hemoglobinopathy status should be performed on all oocyte and sperm donors”., “Fragile X carrier status should be performed for all oocyte donors with a family history of Fragile X-related disorders or intellectual disability (and may be considered for all donors regardless of history)”., and “Pan-ethnic expanded carrier screening is recommended over ethnicity-based panels… given that rare recessive conditions can occur in any ethnic group despite lower frequencies.”. These professional guidelines align well with the NYS requirement that the Medical Director establish which “other conditions” to test based on current knowledge..

Examples of expanded screening in NYS programs:

Many sperm banks and egg donor agencies in NY now automatically test all donors for a large multi-gene panel (often using a commercial ECS panel, discussed below). This typically includes dozens of diseases: the core ones (CF, SMA, sickle/thalassemia) plus others like Duchenne muscular dystrophy (if female donor), fragile X, Bloom syndrome, Fanconi anemia, glycogen storage diseases, etc. Donors commonly receive a report indicating which of ~100–500 conditions they carry.
The medical advisory committee often sets thresholds for donor eligibility based on these results. Generally, being a carrier is not disqualifying in itself (since carriers are healthy), except in certain cases. For instance, ASRM guidance notes that a donor who is a carrier of an autosomal recessive condition that has health implications even in carriers (e.g. **ataxia-telangiectasia carriers have higher cancer risk; Nijmegen breakage syndrome carriers have some health risks) might need case-by-case consideration. Carriers of X-linked diseases (female donors with an X-linked mutation) are usually excluded, because any male child would have a 50% chance of being affected – ASRM advises that oocyte donors who carry significant X-linked mutations (other than perhaps a mild one like G6PD deficiency) should not be used. The NYS regulation doesn’t spell this out, but a prudent Medical Director’s policy would likely mirror these practices – e.g., “Exclude egg donors who are Fragile X premutation carriers beyond intermediate range, or who carry Duchenne muscular dystrophy mutations,” etc., to avoid high-risk scenarios.
Informed consent and counseling: Expanded panels can find that virtually all donors are carriers of something (with large panels, ~80% of individuals will test positive for at least one recessive mutation.). NYS requires that “accurate, written donor profiles or other descriptions of pertinent donor characteristics shall be provided upon request to physicians using the donor’s tissue”., which includes genetic test results. Both donors and recipients should receive counseling about what a positive carrier result means. For example, a sperm donor might learn he carries a mutation for cystic fibrosis – a genetic counselor or physician should explain that this does not affect his health, but any recipient using his sperm should be tested to ensure she is not a CF carrier of a compatible mutation. NYS mandates that results of all donor testing be made available to the donor and the recipient’s physician., and ASRM similarly emphasizes thorough counseling for recipients about donor carrier status and residual risks..

In essence, NYS’s framework via Subpart 52-8.6(h) pushes fertility programs toward best practices in genetic screening without rigidly listing every disease. The Medical Director’s policy is the mechanism to keep pace with scientific advances. In 2025, “best practice” means expanded carrier screening is considered standard for donor workups..A clinic that only did Tay-Sachs for Jewish donors and CF for whites, for example, would be behind the times – most now do much more. The NYS DOH expects clinics to adopt these expansions as needed, which ultimately benefits patients by minimizing genetic risks in third-party reproduction.

Commercial Carrier Screening Panels (Horizon, Inheritest, CarrierMap, etc.) in Donor Screening

To implement the above genetic testing, tissue banks typically rely on commercial laboratory panels designed for carrier screening. Three widely used products are:

Horizon™ by Natera: A carrier screening platform offering panels of various sizes. Horizon can test for a small set of core conditions or an extended list up to 274 genetic conditions.Clinics can choose, for example, “Horizon 4” (for 4 diseases), “Horizon 27”, “Horizon 106”, or the max panel (~274 conditions) based on their protocol. Horizon covers all commonly recommended genes (CFTR, SMN1 for SMA, FMR1 for Fragile X, hemoglobinopathies, and many rare disorders). It uses next-generation sequencing (NGS) and targeted mutation analysis to identify carriers. For donor screening, many programs opt for the Horizon expanded panel so that all relevant conditions are checked in one test. The panel’s high detection rates in various ethnicities (Natera provides ethnicity-specific detection statistics for many diseases) is an advantage. Horizon’s reports clearly indicate which mutations were tested and whether the donor is a carrier for each.
Inheritest™ (Myriad/LabCorp): Inheritest was originally Myriad Genetics’ carrier screening menu, and LabCorp has also offered versions of it (LabCorp’s website references an “Inheritest 500 Plus” panel). These panels can include hundreds of genes – despite the “500” name, one comprehensive panel example involves analysis of ~145 genes by NGS, covering conditions like Bloom syndrome, Canavan, CF, Gaucher, Tay-Sachs, familial dysautonomia, Fanconi anemia and many others.. Myriad also markets the Foresight® Carrier Screen (formerly Counsyl’s product), which similarly offers an expanded panel (175+ conditions) and a “max” panel with over 400 conditions. Inheritest/Foresight panels are customizable: a clinic might use a targeted ethnic panel or go straight to the “complete” panel for donors. In donor screening, the trend is to use the largest panel available so nothing is missed. One practical consideration is turnaround time and cost: expanded panels sequence many genes, but labs like Myriad and LabCorp have optimized workflows to deliver results often within 2–3 weeks, which is acceptable for donor workups. Inheritest panels come with detailed reports and often genetic counselor support for interpretation – helpful when a donor is found to carry an obscure mutation, so the clinic can understand how serious it is.
CarrierMap/Beacon® by Fulgent Genetics: Fulgent offers some of the most expansive panels on the market. Their carrier screening, formerly known as CarrierMap, now falls under the Beacon® expanded carrier screening brand. In 2023 Fulgent launched Beacon787, which tests a staggering 787 genes for autosomal recessive and X-linked conditions. This panel includes all 113 genes recommended by ACMG’s 2021 guidelines (the “Tier 3” pan-ethnic list) and hundreds more, making it one of the broadest available. Fulgent’s panels excel in technical coverage – for instance, they have special methods to reliably detect genes with tricky pseudogene regions (like SMN1, CYP21A2, etc.). For donor programs that truly want comprehensive carrier screening, a panel like CarrierMap/Beacon787 ensures virtually no stone is left unturned. The trade-off is that the more genes you screen, the more likely you find variants of unknown significance or rare carrier hits that need interpretation. Fulgent’s reports, like others, highlight only known pathogenic/likely pathogenic variants, which helps limit confusing findings.

Evaluating these tools for donor eligibility: All these panels are CLIA-certified clinical tests that meet NYS’s requirement for lab testing (note: if the lab is outside NY, it must have a NYS lab permit to perform testing on NY patients – large companies like Natera, Myriad, Fulgent do have NYS approval for their genetic tests, or they partner with labs that do). The key differences among panels are the breadth of conditions and the depth of mutation coverage. A narrower panel (say 4 to 10 diseases) might miss a donor’s carrier status for a less common condition – something unacceptable if that condition is serious and could be passed on. For this reason, most NY programs have gravitated to larger panels. As one fertility specialist noted, “recent ASRM guidance states that ECS is a preferred approach over ethnicity-based screening for prospective gamete donors”. By using a product like Horizon, Inheritest, or CarrierMap at its expanded setting, clinics fulfill this approach, going beyond the NYS minimum and detecting many carriers that otherwise would be unknown.

When a donor’s results come back, the fertility center’s team (often with a genetic counselor) will review any positive carrier findings and decide next steps:

If a donor is a carrier for a common recessive disease (e.g. cystic fibrosis or SMA), typically the donor is still eligible, but any recipient using that donor must be informed and offered testing for that same disease. For example, sperm donor “X” is found to carry one CFTR mutation. The clinic would notify recipient patients (usually via their physicians) that “Donor X is a CF carrier; it is recommended that you (the egg provider or female recipient) undergo CF carrier testing if you haven’t already, to assess the risk to offspring.” Many clinics automatically screen recipients for the most critical genes to ensure they won’t match a carrier donor with a carrier recipient for the same condition.
If a donor is a carrier of a very rare or less severe condition, often it’s of minimal concern. But if it’s a condition that could seriously affect a child and is not easily detectable or avoidable, the clinic might consider excluding that donor to be safe. For instance, a donor found to carry a mutation for a very severe metabolic disorder might still be allowed if the chance of a random recipient also being a carrier is extremely low; whereas a donor carrying an X-linked adrenoleukodystrophy mutation (which could affect sons) would likely be disqualified from egg donation. Each program sets its own cutoff – ASRM suggests that donors who carry mutations for conditions that confer health risks even to carriers (as mentioned earlier) or X-linked disorders with serious impact should be carefully evaluated or excluded..
In the rare case that a donor is found to be homozygous/affected (asymptomatically) for a recessive condition (for example, a female donor with biotinidase deficiency who is on treatment and healthy), the program would likely exclude the donor due to risk to offspring and potential medical complications. Thankfully, most donors do not have overt genetic diseases, since they undergo health history screening that would typically catch any known disorders.

From an SEO perspective, it’s worth naming these panels as key solutions for “reproductive tissue donor eligibility”determination. Horizon, Inheritest, and CarrierMap (Beacon) are specifically designed for carrier screening in fertility settings, and each covers the conditions highlighted in NYS DOH Subpart 52-8 and beyond. Clinics choose among them based on factors like cost agreements, reporting interface, and the extent of panel they desire. All are suitable for meeting and exceeding NYS genetic screening guidelines for donors.

NYS vs. National Guidelines: How Do They Differ?

New York’s requirements parallel many national recommendations, but there are some differences in emphasis and scope:

ACOG (American College of Obstetricians and Gynecologists): ACOG’s Committee Opinion No. 691 (reaffirmed 2023) on Carrier Screening advises offering screening for cystic fibrosis and spinal muscular atrophy to all patients, and a hemoglobinopathy evaluation for all (via CBC, plus targeted testing based on ancestry). It also recommends that those with Ashkenazi Jewish ancestry be offered a panel of specific diseases (Tay–Sachs, Canavan, familial dysautonomia, etc.).. These recommendations closely align with what NYS mandates – the difference is that ACOG frames them as standard of care for pregnancy planning, whereas NYS makes (some of) them a legal requirement for donors. ACOG also supports offering “expanded carrier screening” as an acceptable strategy, as long as patients are counseled about its scope.. One notable expansion beyond NYS law is that ACOG added SMA universally (which NYS did not list in regulation, but most NY clinics include it via policy), and ACOG suggests considering Fragile X screening especially if there’s a family or personal history suggestive of it (e.g. premature ovarian insufficiency or family intellectual disability). NYS did not explicitly mention Fragile X in the rule, but again, a Medical Director would likely have it in the policy for egg donors given that Fragile X mutations can have reproductive implications.
ASRM (American Society for Reproductive Medicine): ASRM’s guidance on gamete and embryo donation (2021) is very much in line with an expanded approach. It “strongly recommends that all egg donors be screened for cystic fibrosis, spinal muscular atrophy, and conditions like thalassemia and sickle cell disease”..ASRM also recommends Fragile X screening for any donor with a relevant family history (and to consider it for all donors regardless).Crucially, ASRM endorses pan-ethnic expanded screening for donors, ideally using the same panel for the donor and the recipient (so that results can be interpreted together).They note this isn’t always mandatory but is best practice. The differences: NYS regulations require certain tests (Tay-Sachs, etc.) if risk factors exist, whereas ASRM would say just test everyone for most of these conditions, risk or not. ASRM explicitly says donors who are carriers need not be excluded (except in special cases), which implies a management strategy rather than disqualification. NYS doesn’t directly address whether a carrier can donate (it doesn’t forbid it), so in practice NY programs follow ASRM’s approach: allow carriers, inform and counsel recipients..
ACMG (American College of Medical Genetics & Genomics): ACMG published a 2021 practice resource advocating a standard panel of 113 genes for carrier screening in all individuals planning pregnancy. This panel (sometimes called “Tier 3”) includes the conditions historically recommended by ACOG/ACMG (CF, SMA, Fragile X, hemoglobinopathies, Ashkenazi panel) plus many additional severe childhood-onset disorders across populations. The goal was to reduce disparity by not making screening dependent on ethnicity and to increase detection of at-risk couples. NYS’s regulation is narrower – it enshrines the older targeted approach (focusing on a few diseases in specific groups).But because of the built-in flexibility (medical director policy), a NY clinic can effectively adopt the ACMG 113-gene panel as its standard, and many have. In fact, one of the reasons for products like Fulgent’s 787-gene panel is to cover all Tier-3 genes and more. The bottom line: ACMG’s stance is more expansive than what NYS explicitly requires, but NYS encourages following such guidance through its policy mandate.The trend is toward equitable pan-ethnic screening for all – something ACMG champions. – whereas NYS is ensuring at least the highest-risk scenarios (e.g. not missing a Tay-Sachs carrier in an Ashkenazi donor) are addressed if one isn’t doing a broad panel.
FDA (Federal Regulations – 21 CFR Part 1271): The U.S. FDA regulates donor eligibility for human cells and tissues (including sperm, eggs, embryos) mainly to prevent infectious disease transmission. FDA rules (21 CFR §1271) require donors of reproductive tissue to be screened for “relevant communicable disease agents” – this includes HIV-1/2, hepatitis B and C, syphilis, and for semen donors also Chlamydia and Gonorrheatesting. FDA also defines “directed donors” and allows certain exceptions (e.g. a directed donor who tests positive for CMV or another virus might still be used with informed consent, which would not be allowed for an anonymous donor). Notably, the FDA has no requirements at all regarding genetic disease carrier screening. The focus is purely on acute infectious risks to the recipient, not on the genetic health of resulting children. This is a fundamental difference: under FDA rules, a sperm donor who is a carrier of Tay-Sachs or CF is still considered “eligible” as long as he’s negative for HIV, hepatitis, etc. By contrast, NYS rules go beyond – New York is concerned not just with immediate safety but also with hereditary outcomes. As one commentary put it, “The FDA is concerned with public health risks (infections), not the genetic traits of the donor’s offspring”. New York’s added layer of genetic screening is somewhat unique in the U.S. landscape. States like NY (and certain others with tissue bank regulations) impose these extra requirements, whereas in most states the decision to do genetic screening is left to clinics’ discretion and professional guidelines.

In summary, NYS regulations are largely consistent with recommendations from ACOG/ASRM/ACMG but enforce a baseline that must be met. They specifically codify testing for Tay-Sachs, CF, sickle cell, and thalassemias in at-risk donors,which mirrors longstanding medical guidance for those populations. NYS then empowers clinics to add more tests as appropriate, effectively endorsing the movement toward expanded panels. The differences are more about scope (NYS names only four diseases vs. professional guidelines listing many) and mandate (NYS makes it a legal requirement for donor programs, whereas ACOG/ASRM make it the standard of care but not a law). For a fertility practice or donor bank, there is little conflict: by following the most current national guidelines (e.g. doing pan-ethnic expanded screening), they will automatically satisfy NYS’s regulations andprovide the highest level of care.

Conclusion

Genetic carrier screening has become an integral part of reproductive tissue donor qualification in New York. Under NYS DOH Subpart 52-8, any sperm, egg, or embryo donor must undergo rigorous evaluation to ensure they are not unwittingly passing on serious hereditary diseases.This includes mandatory testing for Tay–Sachs disease, cystic fibrosis, sickle cell anemia, and thalassemias in donors of corresponding ethnic risk groups. Moreover, NYS expects each tissue bank’s Medical Director to keep screening protocols up-to-date, often meaning expanded carrier screening panels are used to check hundreds of potential conditions.

For donors, this process may seem extensive, but it serves a critical purpose: to protect future children and inform recipient parents. For recipients, the outcome is greater peace of mind – they receive donor genetic profiles and can avoid matches that would put a child at risk. New York’s approach, while more demanding than federal requirements, aligns with the direction of modern genetics and infertility care: be proactive and preventive. As ASRM notes, knowing a donor’s carrier status allows clinics to counsel and pair donors/recipients responsibly, rather than simply disqualifying every carrier. This nuanced strategy maximizes donor availability while still minimizing genetic risks.

From an SEO standpoint, anyone researching “reproductive tissue donor eligibility in NY” or “expanded carrier screening guidelines” will find that New York essentially mandates what is increasingly considered best practice. The use of panels like Natera’s Horizon, Myriad’s Inheritest/Foresight, or Fulgent’s CarrierMap in donor workups exemplifies how clinics meet and exceed NYS rules, by screening for dozens of conditions including those listed in Subpart 52-8.6(h). In fact, New York’s emphasis on genetic screening in third-party reproduction is often cited as a model for other regions, especially with the rise of gestational surrogacy and donor conception.

In conclusion, NYS DOH Subpart 52-8.6(h) ensures that “genetic carrier screening” is not an optional extra, but a foundational part of “reproductive tissue donor eligibility”. All donor types – anonymous, directed, and even client-depositors when applicable – are covered. Racial/ethnic background and family history guide specific required tests, summarized in our table above for clarity. The medical director and advisory committee of each program play a key role in implementing expanded carrier screening guidelines, tailoring their panels to reflect current knowledge and technology. And while NYS rules are stringent, they largely echo national recommendations from ACOG, ASRM, and ACMG, with the difference that in New York these recommendations carry the force of law. By adhering to these standards, fertility clinics help ensure that donor-conceived children have the best chance at a healthy start – truly exemplifying the adage that knowledge is power in preventive genetics.

References:

New York Codes, Rules and Regulations, Title 10, Part 52-8.6(h) – Genetic testing requirements for reproductive tissue donors. Amended effective March 20, 2024.
Gilbert BR. Surrogacy Laws in NY: What Couples and Clinics Must Know About Gamete Testing. Bruce R. Gilbert MD PC Blog. 2021
ACOG Committee on Genetics. Committee Opinion No. 691: Carrier Screening for Genetic Conditions. Obstet Gynecol. 2017 (reaffirmed 2023).
ASRM Practice Committee. Guidance regarding gamete and embryo donation. Fertil Steril. 2021;115(6):1395-1410.
ACMG Practice Resource. Carrier Screening for Genetic Conditions (Tier 3 Standard Panel). Genet Med. 2021.
Kaiser Permanente. Genetic Carrier Screening (Patient Education Brochure). 2019.
Natera, Inc. Horizon Carrier Screening – Conditions List & Panels. 2023.
Fulgent Genetics. Press Release: Fulgent Launches Beacon787 Expanded Carrier Panel. Business Wire. Feb 28, 2023.
LabCorp Women’s Health. Inheritest Carrier Screening Panels . LabCorp, 2022.
UnitedHealthcare Medical Policy. Carrier Testing Panels for Genetic Diseases. Rev. May 2025 (for panel definitions).
21 CFR Part 1271 – FDA Donor Eligibility Rules for Human Cells, Tissues, and Cellular-Based Products.2005