Non‐invasive fetal genome sequencing: Opportunities and challenges

Tabor, Holly K.; Murray, Jeffrey C.; Gammill, Hilary S.; Kitzman, Jacob O.; Snyder, Matthew W.; Ventura, Mario; Lewis, Alexandra P.; Qiu, Ruolan; Simmons, LaVone E.; Rubens, Craig E.; Santillan, Mark K.; Eichler, Evan E.; Cheng, Edith; Bamshad, Michael J.; Shendure, Jay

doi:10.1002/ajmg.a.35545

Cited by 13 publications

(12 citation statements)

References 11 publications

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“…At present, NIPT is primarily recommended for women of advanced maternal age (2,4,8,9) as the test's sensitivity and specificity in lowrisk populations has not been well established. Over time, however, with advances in the science of cell-free fetal DNA (10)(11)(12)(13)(14), it is expected that NIPT will evolve into a diagnostic tool that can generate detailed genetic information about the fetus while bypassing the risks of invasive testing and the uncertainties of screening (15)(16)(17)(18).…”

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confidence: 99%

What Women Want: Lead Considerations for Current and Future Applications of Noninvasive Prenatal Testing in Prenatal Care

Farrell

Agatisa

Nutter

2014

Birth

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Background Noninvasive prenatal testing (NIPT) will change the delivery of prenatal care for all women, including those considered low-risk for fetal chromosomal abnormalities. This study investigated pregnant women's attitudes, informational needs, and decision-making preferences regarding current and future applications of NIPT. Methods A survey instrument was used to identify aspects of the decision-making process for NIPT among low-risk and high-risk populations. Results Both low-risk and high-risk women (n=334) expressed interest in incorporating NIPT as a screening test into their prenatal care. Information specific to NIPT's detection rate (86%), indications (77%), and performance in comparison with conventional screens and diagnostic tests (63%) were identified as lead factors when considering its use. The future availability of NIPT as a diagnostic test increased women's willingness to undergo testing for fetal aneuploidy, cancer susceptibility, childhood-onset and adult-onset diseases. Despite its noninvasive aspects, participants expressed the need for a formal informed consent process (71%) to take place prior to testing. Conclusions Our study demonstrates that NIPT will introduce new challenges for pregnant women and their healthcare providers who will be charged with supporting informed decision-making about its use. It is critical that obstetric professionals are prepared to facilitate a patient-centered decision-making process as its clinical application rapidly changes.

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confidence: 99%

What Women Want: Lead Considerations for Current and Future Applications of Noninvasive Prenatal Testing in Prenatal Care

Farrell

Agatisa

Nutter

2014

Birth

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“…Microdeletions and single-gene disorders may also be detected with NIPT through microarray, whole genome sequencing, or targeted single-nucleotide polymorphism (SNP) analysis (Fan et al 2012; Juneau et al 2014; Kitzman et al 2012; Rabinowitz et al 2014). While these techniques allow for a more detailed examination of the fetal genome, they also bring into the prenatal period many of the debates and ethical concerns previously associated with pediatric and adult sequencing (Donley, Hull, and Berkman 2012; Tabor et al 2012). …”

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confidence: 99%

Old Questions, New Paradigms: Ethical, Legal, and Social Complications of Noninvasive Prenatal Testing

Michie

Allyse

2015

AJOB Empirical Bioethics

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“…The samples obtained from these initial participants have enabled the development of new technologies including generating of patents to predict women at risk of various adverse pregnancy outcomes and the sequencing of the fetal genome from maternal plasma [6, 7]. The Women’s Health Tissue Repository is a powerful research tool that has stimulated many projects and allows us to explore genetic, environmental, and health risk factors, as well as other variables in relation to the outcomes of pregnancy including short and long-term maternal health, length of gestation, and short and long-term child health outcomes.…”

Section: Commentmentioning

confidence: 99%

“Collection of a lifetime: A practical approach to developing a longitudinal collection of women's healthcare biological samples”

Santillan

Leslie

Hamilton

et al. 2014

European Journal of Obstetrics & Gynecology and Reproductiv

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Objective The objective is to develop a biorepository of samples that represent all stages of a women’s life. Importantly, our goal is to collect longitudinal physical specimens as well as the associated short and long-term clinical information. Study Design The Women’s Health Tissue Repository was established to encompass four tissue banks: Well Women Tissue Bank, Reproductive Endocrinology & Infertility Tissue Bank, Maternal Fetal Tissue Bank, and the long-established Gynecologic Malignancies Tissue Bank. Based on their health status, women being seen in Women’s Health at the University of Iowa are recruited to contribute samples and grant access to their electronic medical record to the biorepository. Samples are coded, processed, and stored for use by investigators. Results The Maternal Fetal Tissue Bank was the first expansion of our department’s biobanking efforts. Approximately 75% of the women approached consent to participate in the Maternal Fetal Tissue Bank. Enrollment has steadily increased. Samples have been used for over 20 projects in the first 3 years and are critical to 7 funded grants and 3 patent applications. Conclusion Patient samples with corresponding clinical data are initially important to women’s health research. Our model demonstrates that many research projects by faculty, fellows, and residents have benefited from the existence of the Women’s Health Tissue Repository. While challenging to achieve, longitudinal sampling allows for the greatest opportunity to study normal and pathological changes throughout all phases of a women’s life, including pregnancy. This bank facilitates and accelerates the development of novel research, technologies, and possible therapeutic options in women’s health. The establishment of more longitudinal biorepositories based on our model would enhance women’s health research.

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Non‐invasive fetal genome sequencing: Opportunities and challenges

Cited by 13 publications

References 11 publications

What Women Want: Lead Considerations for Current and Future Applications of Noninvasive Prenatal Testing in Prenatal Care

What Women Want: Lead Considerations for Current and Future Applications of Noninvasive Prenatal Testing in Prenatal Care

Old Questions, New Paradigms: Ethical, Legal, and Social Complications of Noninvasive Prenatal Testing

“Collection of a lifetime: A practical approach to developing a longitudinal collection of women's healthcare biological samples”

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