Moving from Possibilities to Preparedness Using Genetic Screening



By Carolyn McPhee, Manager, Science Programs

Genetic screening may not be top of mind for many parents-to-be when deciding to have children. However, genetic screening may offer information into the possibility of certain heritable conditions, helping women and their partners make informed decisions about their reproductive health, pregnancy management, and future child-rearing. Expanded carrier screening (ECS) and noninvasive prenatal screening (NIPS) are two types of screening that can provide important insight into a family’s genetic information.

Carrier screenings may help individuals determine the risk of passing on an inherited genetic condition. Screening is best executed when both parents are screened to assess the risk of passing on autosomal recessive or X-linked genetic conditions, both of which could impact the health of their children. Historically, carrier screening has been offered based on a patient’s race/ethnicity, as some conditions occur more commonly in specific ethnic groups. Recent studies, however, have led various professional organizations in the genetic counseling and reproductive health space (e.g., ACOG, ACMG, NSGC, PQF, and SMFM) to differentially endorse ethnic-specific and expanded carrier screening (which is conducted regardless of ethnicity). This lack of consensus can leave many providers without sufficient guidance on how to best serve their patients.

NIPS, for example, is used during pregnancy to assess a developing fetus for risk of certain chromosomal abnormalities. NIPS is also referred to as cell-free DNA (cfDNA) screening because it uses a blood sample from the pregnant mother to examine the fetal component of cfDNA from the placenta, which is found in the mother’s blood stream. This screening is considered noninvasive since it only requires a blood draw from the mother and poses little risk to the mother and fetus. Thus, NIPS may offer an optimal first risk assessment for chromosomal abnormalities that could lead to conditions such as Down syndrome, Edward syndrome, or Patau syndrome. While NIPS represents a valuable advancement in screening technology, it cannot be used as a replacement for diagnostic testing, and improvements can still be made in patient understanding and access.

SWHR recently convened a diverse working group of clinicians, genetic counselors, patient advocates, policy professionals, and industry representatives for a three-day roundtable meeting on eliminating barriers to access and, by extension, reducing health disparities in prenatal care as they relate to ECS and NIPS. The roundtable participants highlighted knowledge gaps and unmet needs in clinical care, education, and policy that could be addressed in order to improve the integration of genetic screening in women’s health care.

The Importance of Patient Education in Genetic Screening

ECS and NIPS are not diagnostic tests; positive results do not definitively mean that the baby will have a genetic condition. Rather, these DNA-based types of screenings are used to assess the possibility or risk for genetic conditions that might develop based on certain chromosomal abnormalities. It is important for potential future parents to understand the purpose, risks, benefits, and limitations of genetic screening so they can make informed decisions about their reproductive health. Health care providers and other medical staff play an important role in ensuring conversations with patients about genetic screening are effective.

Productive conversations must focus on helping patients understand the basics of genetic diseases and how they relate to maternal and infant health. Roundtable participants stressed the need for patient education to begin preferably before pregnancy and continue at designated time points throughout pregnancy. Although the group acknowledged there is no “right” age to start discussing genetic screening and reproductive health, the consensus was that awareness-building could begin in adolescence (for example, during sex education courses in secondary school). They also emphasized the importance of having conversations about the carrier screening process, including what it means to be a genetic carrier, considerations for paternal partner testing, relaying results to other family members, and other implications for family planning. Taking advantage of early and recurring opportunities for education may also help resolve misconceptions and allow providers to identify the best windows of opportunity to engage patients on these topics.

Successful approaches to genetic screening also consider patient experiences, values, and perspectives in the context of access and decision-making, ensuring that patients understand the implications of these tests and are free to determine if and how they will proceed. Clinicians need to assess patient needs and desires throughout the pre-conception, pregnancy, and postpartum stages. Patient advocates shared that the misconceptions about living with a genetic condition can impact bedside manner, and therein hinder the patient-provider relationship. Additionally, it is important for providers to be aware of and ready to refer patients to necessary resources in their community, such as genetic counselors or support groups, should their screening and subsequent diagnostic tests indicate an increased risk for their child to develop a genetic condition.

A Team Approach to Educating Mothers

Roundtable participants recognized that providers and their staff could benefit from additional tools and instruction on how to better communicate with their patients on these topics. Summer Pierson, senior manager of provider engagement and relationships at Myriad Genetics noted, “[Educational material that] works for academics doesn’t necessarily work for patients. There is opportunity to step back and reimagine what written communication can be.”

Further, the target audience for educational materials needs to expand beyond obstetricians and gynecologists. Primary care clinicians, phlebotomists, nurses, and midwives all may be involved in a woman’s maternity journey and represent a space to engage with expectant mothers and answer any questions they may have. Developing education and training for the vast array of health care workers in a mother-to-be’s network will support her ability to make a more informed decision about how genetic screening might be incorporated into her family planning and reproductive health.

Guidelines and Policies to Support Equity and Access

The variations in guidance for genetic screening released by different professional organizations may cause some confusion for clinicians on how to offer carrier screening (e.g., whether to consider ethnicity) and what conditions should be included in a screening panel. Target genes on screening panels have historically tended to benefit individuals from certain racial or ethnic backgrounds, but shifting to an exclusively pan-ethnic approach might improve equity and access in regard to genetic screening. Despite certain ethnicities having increased risk for specific genetic conditions, it is important that every patient be engaged in individualized genetic screening conversations. “All patients should be offered information and support to make the decisions about what, if any, genetic testing they would like to consider,” said Katie Stoll, executive director at the Genetic Support Foundation. An overarching framework that addresses women’s health disparities through genetics is needed so that genetic screening can be consistently and appropriately addressed with all patients.

Additionally, clinicians must take steps when offering screening for the purpose of reproductive decision-making to ensure that it is not misinterpreted as an implication of negative or discriminatory views about the indicated genetic conditions. Patient advocates emphasized the importance of including patient perspectives in the development of policies related to genetic screening. Ensuring that multiple stakeholders and diverse patient perspectives are included in policies and practices for prenatal genetic screening programs could reduce disparities and the potential harm to historically marginalized populations, including racial/ethnic minorities and those living with genetic conditions and disabilities.

Finally, access to genetic screening is hindered by limited insurance coverage and reimbursement, including coverage for the counseling necessary to improve parental readiness following a reading. Participants noted that while the COVID-19 pandemic broadened access to genetic counselors through telehealth, the general lack of insurance coverage for their services has allowed inequities and disparities to persist, which could have ramifications for the health outcomes of both mother and baby.

Future Directions

Genetic screening is a technological advancement that has the potential to position expecting parents in a place of preparedness to address heritable diseases and chromosomal conditions and improve health outcomes for their children. Removing barriers to understanding and accessing screening options and genetic counseling and equipping patients to make informed decisions about potential testing will require a combination of patient outcomes research, patient and provider education, and revised health care policy. SWHR will continue working to pinpoint opportunities to build awareness, advance policies that expand access to coverage, and advocate for improved health equity and outcomes for women as both patients and caregivers in the reproductive health space.

SWHR Genetic Screening Roundtable is supported by educational sponsorships from Illumina, Invitae, and Myriad Women’s Health. SWHR maintains editorial control and independence over educational content.

 

By Carolyn McPhee, Manager, Science Programs

Genetic screening may not be top of mind for many parents-to-be when deciding to have children. However, genetic screening may offer information into the possibility of certain heritable conditions, helping women and their partners make informed decisions about their reproductive health, pregnancy management, and future child-rearing. Expanded carrier screening (ECS) and noninvasive prenatal screening (NIPS) are two types of screening that can provide important insight into a family’s genetic information.

Carrier screenings may help individuals determine the risk of passing on an inherited genetic condition. Screening is best executed when both parents are screened to assess the risk of passing on autosomal recessive or X-linked genetic conditions, both of which could impact the health of their children. Historically, carrier screening has been offered based on a patient’s race/ethnicity, as some conditions occur more commonly in specific ethnic groups. Recent studies, however, have led various professional organizations in the genetic counseling and reproductive health space (e.g., ACOG, ACMG, NSGC, PQF, and SMFM) to differentially endorse ethnic-specific and expanded carrier screening (which is conducted regardless of ethnicity). This lack of consensus can leave many providers without sufficient guidance on how to best serve their patients.

NIPS, for example, is used during pregnancy to assess a developing fetus for risk of certain chromosomal abnormalities. NIPS is also referred to as cell-free DNA (cfDNA) screening because it uses a blood sample from the pregnant mother to examine the fetal component of cfDNA from the placenta, which is found in the mother’s blood stream. This screening is considered noninvasive since it only requires a blood draw from the mother and poses little risk to the mother and fetus. Thus, NIPS may offer an optimal first risk assessment for chromosomal abnormalities that could lead to conditions such as Down syndrome, Edward syndrome, or Patau syndrome. While NIPS represents a valuable advancement in screening technology, it cannot be used as a replacement for diagnostic testing, and improvements can still be made in patient understanding and access.

SWHR recently convened a diverse working group of clinicians, genetic counselors, patient advocates, policy professionals, and industry representatives for a three-day roundtable meeting on eliminating barriers to access and, by extension, reducing health disparities in prenatal care as they relate to ECS and NIPS. The roundtable participants highlighted knowledge gaps and unmet needs in clinical care, education, and policy that could be addressed in order to improve the integration of genetic screening in women’s health care.

The Importance of Patient Education in Genetic Screening

ECS and NIPS are not diagnostic tests; positive results do not definitively mean that the baby will have a genetic condition. Rather, these DNA-based types of screenings are used to assess the possibility or risk for genetic conditions that might develop based on certain chromosomal abnormalities. It is important for potential future parents to understand the purpose, risks, benefits, and limitations of genetic screening so they can make informed decisions about their reproductive health. Health care providers and other medical staff play an important role in ensuring conversations with patients about genetic screening are effective.

Productive conversations must focus on helping patients understand the basics of genetic diseases and how they relate to maternal and infant health. Roundtable participants stressed the need for patient education to begin preferably before pregnancy and continue at designated time points throughout pregnancy. Although the group acknowledged there is no “right” age to start discussing genetic screening and reproductive health, the consensus was that awareness-building could begin in adolescence (for example, during sex education courses in secondary school). They also emphasized the importance of having conversations about the carrier screening process, including what it means to be a genetic carrier, considerations for paternal partner testing, relaying results to other family members, and other implications for family planning. Taking advantage of early and recurring opportunities for education may also help resolve misconceptions and allow providers to identify the best windows of opportunity to engage patients on these topics.

Successful approaches to genetic screening also consider patient experiences, values, and perspectives in the context of access and decision-making, ensuring that patients understand the implications of these tests and are free to determine if and how they will proceed. Clinicians need to assess patient needs and desires throughout the pre-conception, pregnancy, and postpartum stages. Patient advocates shared that the misconceptions about living with a genetic condition can impact bedside manner, and therein hinder the patient-provider relationship. Additionally, it is important for providers to be aware of and ready to refer patients to necessary resources in their community, such as genetic counselors or support groups, should their screening and subsequent diagnostic tests indicate an increased risk for their child to develop a genetic condition.

A Team Approach to Educating Mothers

Roundtable participants recognized that providers and their staff could benefit from additional tools and instruction on how to better communicate with their patients on these topics. Summer Pierson, senior manager of provider engagement and relationships at Myriad Genetics noted, “[Educational material that] works for academics doesn’t necessarily work for patients. There is opportunity to step back and reimagine what written communication can be.”

Further, the target audience for educational materials needs to expand beyond obstetricians and gynecologists. Primary care clinicians, phlebotomists, nurses, and midwives all may be involved in a woman’s maternity journey and represent a space to engage with expectant mothers and answer any questions they may have. Developing education and training for the vast array of health care workers in a mother-to-be’s network will support her ability to make a more informed decision about how genetic screening might be incorporated into her family planning and reproductive health.

Guidelines and Policies to Support Equity and Access

The variations in guidance for genetic screening released by different professional organizations may cause some confusion for clinicians on how to offer carrier screening (e.g., whether to consider ethnicity) and what conditions should be included in a screening panel. Target genes on screening panels have historically tended to benefit individuals from certain racial or ethnic backgrounds, but shifting to an exclusively pan-ethnic approach might improve equity and access in regard to genetic screening. Despite certain ethnicities having increased risk for specific genetic conditions, it is important that every patient be engaged in individualized genetic screening conversations. “All patients should be offered information and support to make the decisions about what, if any, genetic testing they would like to consider,” said Katie Stoll, executive director at the Genetic Support Foundation. An overarching framework that addresses women’s health disparities through genetics is needed so that genetic screening can be consistently and appropriately addressed with all patients.

Additionally, clinicians must take steps when offering screening for the purpose of reproductive decision-making to ensure that it is not misinterpreted as an implication of negative or discriminatory views about the indicated genetic conditions. Patient advocates emphasized the importance of including patient perspectives in the development of policies related to genetic screening. Ensuring that multiple stakeholders and diverse patient perspectives are included in policies and practices for prenatal genetic screening programs could reduce disparities and the potential harm to historically marginalized populations, including racial/ethnic minorities and those living with genetic conditions and disabilities.

Finally, access to genetic screening is hindered by limited insurance coverage and reimbursement, including coverage for the counseling necessary to improve parental readiness following a reading. Participants noted that while the COVID-19 pandemic broadened access to genetic counselors through telehealth, the general lack of insurance coverage for their services has allowed inequities and disparities to persist, which could have ramifications for the health outcomes of both mother and baby.

Future Directions

Genetic screening is a technological advancement that has the potential to position expecting parents in a place of preparedness to address heritable diseases and chromosomal conditions and improve health outcomes for their children. Removing barriers to understanding and accessing screening options and genetic counseling and equipping patients to make informed decisions about potential testing will require a combination of patient outcomes research, patient and provider education, and revised health care policy. SWHR will continue working to pinpoint opportunities to build awareness, advance policies that expand access to coverage, and advocate for improved health equity and outcomes for women as both patients and caregivers in the reproductive health space.

SWHR Genetic Screening Roundtable is supported by educational sponsorships from Illumina, Invitae, and Myriad Women’s Health. SWHR maintains editorial control and independence over educational content.