Empowered Reproductive Choices: Understanding NIPS and Genetic Screening in Pregnancy
Upon completing her graduate degree in genetic counseling, Zoë Milgrom's initial employment brought her face-to-face with the challenging reality of applying her education. She found herself in diverse obstetric and pediatric departments within a prominent public hospital in Sydney, where her role involved assisting families dealing with high-risk pregnancies and navigating complex diagnostic journeys.
Recalling those moments, she reflects, "I have vivid memories of numerous family meetings where the neurologist or pediatrician had the daunting task of conveying devastating news that carried fatal implications for these precious infants. Witnessing the profound sorrow etched onto the parents' faces was heart-wrenching. Often, I found myself in the position of having to convey the unfortunate message that, based on the information and results, their child would not survive." Milgrom formed deep connections with these families and frequently became the person they turned to in their time of need.
It was within one of these relationships that a pivotal realization emerged. She explains, "It struck me that genetic testing and counseling wield incredible power, profoundly affecting not only the diagnosed individual but also their family and the entire community. This impact is so significant that it ought to be destigmatized and made more commonplace."
Subsequently, Milgrom transitioned to a private fertility clinic, where patients had more options to anticipate or mitigate loss. Nevertheless, she observed that a considerable amount of heartache had driven people to seek assistance at the clinic.
As the cost of genomic sequencing decreased over time, Milgrom continued to question the barriers preventing individuals from accessing carrier screening. In Australia, couples often faced wait times of up to two years for genetic counseling and carrier screening tests.
During her own maternity leave, Milgrom crossed paths with entrepreneur Kunal Kalro, who shared her fervor for enhancing genetic accessibility. Both driven by this vision, they established Eugene in 2017. The subsequent year saw them catering to clients seeking reproductive carrier screening, aiming to make clinical genetic testing and counseling widely available to the general populace.
Accessible Screening Process
Operating exclusively in the digital realm, Eugene provides its services to individuals in both Australia and New Zealand. Prospective clients initiate the process online by sharing their family history and scheduling a genetic counseling session. During this session, they gain insights into the advantages and limitations of genetic testing while reviewing their information. Upon the counselor's recommendation, a saliva test kit is dispatched to the client's address and subsequently sent to a laboratory for analysis. Eugene's team of genetic counselors and geneticists thoroughly evaluate the laboratory findings.
The outcomes are communicated directly through a video call. For the majority of clients, this interaction is brief. However, individuals identified as having an elevated risk of passing on a genetic condition receive comprehensive guidance and support from Eugene's counselors, who also collaborate with the patient's healthcare provider. One of the hallmarks of Eugene's approach is their ability to translate complex scientific information into practical options that clients can utilize to make well-informed choices. It's important to note that clients retain ownership of their genetic data, and the decisions they make based on the results are entirely their own.
Navigating Genetic Insights
Around 70% of those subjected to an expanded carrier screening panel are found to be carriers of at least one significant genetic condition. Typically, these conditions are recessive and have minimal implications for the individual being tested. Zoë Milgrom emphasizes that relying solely on family history is not a reliable predictor. In reality, approximately 90% of children born with an inherited genetic condition have no prior family history of it.
Among the couples tested, roughly 2%–3% are identified as having an increased likelihood of having a child with a significant inherited genetic condition. This underscores the importance of genetic counseling in reproductive carrier screening, as the information gleaned can significantly influence the choices made by the couple. Milgrom underscores the array of available choices and the necessity to empower couples, enabling them to make informed decisions rooted in their personal values and beliefs.
Advocating for Informed Choices
Presently, the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommends that individuals planning pregnancy or in their initial trimester be informed about the option of reproductive carrier screening. While a three-gene test is the most prevalent carrier screening method in Australia, Milgrom highlights its lower detection rates for individuals of non-European descent. Therefore, expanded panels offer a far more comprehensive approach to identifying carrier couples, regardless of their ancestral background.
Addressing Knowledge Gaps
The scarcity of diverse populations within the existing genomic dataset hampers our understanding of diseases and the potential for precision medicine. A significant portion of the genome-wide association study data available in the public GWAS Catalog is derived from individuals of European descent, constituting 78% of the dataset.
“If we’re moving towards the future of precision medicine, the genomic data needs to include people of diverse backgrounds,” said Milgrom.
pproximately 90% of expectant individuals opt for a different form of screening known as non-invasive prenatal screening, abbreviated as NIPS (referred to as NIPT in the US). Milgrom highlights that these distinct NIPS assessments, often conducted during the initial trimester, exhibit variations in terms of the tested chromosomes, employed technology, and level of accuracy.
She further points out that NIPS, which can be undertaken with each pregnancy, is frequently confused with carrier screening. Carrier screening is typically a one-time procedure aimed at determining whether parents carry a genetic condition that could be inherited by their offspring. Additionally, she emphasizes the misconception of assuming all is well based on a single negative genetic test result, despite the fact that new genetic changes can arise during any pregnancy. Milgrom stresses that families need to understand that no genetic screening test can guarantee a definitive diagnosis or entirely eliminate all risks. Pregnancy inherently involves uncertainties. Nonetheless, there exist methods to identify if one falls into a higher risk category, thereby enabling proactive and empowered reproductive decision-making.
Reflecting on Eugene's inaugural five years, Milgrom experiences a profound sense of accomplishment in having assisted couples throughout Australia and New Zealand on their journey to becoming parents.
“No one chose their DNA,” said Milgrom. “It’s what makes us who we are. So I have sort of a personal crusade to celebrate genetic diversity by making people know that we all carry variations in our DNA, and if we know about them we can choose whether we act on them or not.”
Recalling those moments, she reflects, "I have vivid memories of numerous family meetings where the neurologist or pediatrician had the daunting task of conveying devastating news that carried fatal implications for these precious infants. Witnessing the profound sorrow etched onto the parents' faces was heart-wrenching. Often, I found myself in the position of having to convey the unfortunate message that, based on the information and results, their child would not survive." Milgrom formed deep connections with these families and frequently became the person they turned to in their time of need.
It was within one of these relationships that a pivotal realization emerged. She explains, "It struck me that genetic testing and counseling wield incredible power, profoundly affecting not only the diagnosed individual but also their family and the entire community. This impact is so significant that it ought to be destigmatized and made more commonplace."
Subsequently, Milgrom transitioned to a private fertility clinic, where patients had more options to anticipate or mitigate loss. Nevertheless, she observed that a considerable amount of heartache had driven people to seek assistance at the clinic.
As the cost of genomic sequencing decreased over time, Milgrom continued to question the barriers preventing individuals from accessing carrier screening. In Australia, couples often faced wait times of up to two years for genetic counseling and carrier screening tests.
During her own maternity leave, Milgrom crossed paths with entrepreneur Kunal Kalro, who shared her fervor for enhancing genetic accessibility. Both driven by this vision, they established Eugene in 2017. The subsequent year saw them catering to clients seeking reproductive carrier screening, aiming to make clinical genetic testing and counseling widely available to the general populace.
Accessible Screening Process
Operating exclusively in the digital realm, Eugene provides its services to individuals in both Australia and New Zealand. Prospective clients initiate the process online by sharing their family history and scheduling a genetic counseling session. During this session, they gain insights into the advantages and limitations of genetic testing while reviewing their information. Upon the counselor's recommendation, a saliva test kit is dispatched to the client's address and subsequently sent to a laboratory for analysis. Eugene's team of genetic counselors and geneticists thoroughly evaluate the laboratory findings.
The outcomes are communicated directly through a video call. For the majority of clients, this interaction is brief. However, individuals identified as having an elevated risk of passing on a genetic condition receive comprehensive guidance and support from Eugene's counselors, who also collaborate with the patient's healthcare provider. One of the hallmarks of Eugene's approach is their ability to translate complex scientific information into practical options that clients can utilize to make well-informed choices. It's important to note that clients retain ownership of their genetic data, and the decisions they make based on the results are entirely their own.
Navigating Genetic Insights
Around 70% of those subjected to an expanded carrier screening panel are found to be carriers of at least one significant genetic condition. Typically, these conditions are recessive and have minimal implications for the individual being tested. Zoë Milgrom emphasizes that relying solely on family history is not a reliable predictor. In reality, approximately 90% of children born with an inherited genetic condition have no prior family history of it.
Among the couples tested, roughly 2%–3% are identified as having an increased likelihood of having a child with a significant inherited genetic condition. This underscores the importance of genetic counseling in reproductive carrier screening, as the information gleaned can significantly influence the choices made by the couple. Milgrom underscores the array of available choices and the necessity to empower couples, enabling them to make informed decisions rooted in their personal values and beliefs.
Advocating for Informed Choices
Presently, the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) recommends that individuals planning pregnancy or in their initial trimester be informed about the option of reproductive carrier screening. While a three-gene test is the most prevalent carrier screening method in Australia, Milgrom highlights its lower detection rates for individuals of non-European descent. Therefore, expanded panels offer a far more comprehensive approach to identifying carrier couples, regardless of their ancestral background.
Addressing Knowledge Gaps
The scarcity of diverse populations within the existing genomic dataset hampers our understanding of diseases and the potential for precision medicine. A significant portion of the genome-wide association study data available in the public GWAS Catalog is derived from individuals of European descent, constituting 78% of the dataset.
“If we’re moving towards the future of precision medicine, the genomic data needs to include people of diverse backgrounds,” said Milgrom.
pproximately 90% of expectant individuals opt for a different form of screening known as non-invasive prenatal screening, abbreviated as NIPS (referred to as NIPT in the US). Milgrom highlights that these distinct NIPS assessments, often conducted during the initial trimester, exhibit variations in terms of the tested chromosomes, employed technology, and level of accuracy.
She further points out that NIPS, which can be undertaken with each pregnancy, is frequently confused with carrier screening. Carrier screening is typically a one-time procedure aimed at determining whether parents carry a genetic condition that could be inherited by their offspring. Additionally, she emphasizes the misconception of assuming all is well based on a single negative genetic test result, despite the fact that new genetic changes can arise during any pregnancy. Milgrom stresses that families need to understand that no genetic screening test can guarantee a definitive diagnosis or entirely eliminate all risks. Pregnancy inherently involves uncertainties. Nonetheless, there exist methods to identify if one falls into a higher risk category, thereby enabling proactive and empowered reproductive decision-making.
Reflecting on Eugene's inaugural five years, Milgrom experiences a profound sense of accomplishment in having assisted couples throughout Australia and New Zealand on their journey to becoming parents.
“No one chose their DNA,” said Milgrom. “It’s what makes us who we are. So I have sort of a personal crusade to celebrate genetic diversity by making people know that we all carry variations in our DNA, and if we know about them we can choose whether we act on them or not.”
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