Publications by authors named "Katie Stoll"

20 Publications

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Homozygous 15q13.3 microdeletion in a child with hypotonia and impaired vision: A new report and review of the literature.

Clin Case Rep 2019 Dec 30;7(12):2311-2315. Epub 2019 Sep 30.

Genomics Institute Mary Bridge Children's Hospital, MultiCare Health System Tacoma Washington.

Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports. Common clinical features include encephalopathy, hypotonia, developmental delay, cortical vision impairment, optic nerve abnormality, epilepsy, and abnormal electroencephalogram (EEG) findings.
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http://dx.doi.org/10.1002/ccr3.2403DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935653PMC
December 2019

Supporting Patient Autonomy and Informed Decision-Making in Prenatal Genetic Testing.

Cold Spring Harb Perspect Med 2020 06 1;10(6). Epub 2020 Jun 1.

Department of Genetic Counseling, Brandeis University, Waltham, Massachusetts 02453, USA.

Genetic counselors have both the burden and the privilege of supporting patients who are faced with making difficult decisions. In the prenatal setting, genetic counselors are responsible for reviewing a growing list of prenatal testing options for patients with the goal of helping people to anticipate the potential consequences of their decision. Prenatal genetic counselors also support patients in making decisions about the next steps after clinical evaluation has indicated a genetic condition, birth defect, or information of uncertain clinical significance in the fetus. The information provided and choices patients face in the context of prenatal and reproductive genetics can be life-altering, and decisions often must be made within a short window of time. It is imperative that the needs and preferences of each patient are considered and that individuals are empowered to make active decisions that are consistent with their needs and values. Here we will review the history of the role of the genetic counselor in the prenatal setting and will provide strategies and tools for supporting informed patient decision-making in the face of an increasingly complex reproductive genetic testing landscape.
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http://dx.doi.org/10.1101/cshperspect.a036509DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7263097PMC
June 2020

Examining genetic counselors' implicit attitudes toward disability.

J Genet Couns 2019 12 23;28(6):1098-1106. Epub 2019 Aug 23.

The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA.

Genetic counselors have a unique role in healthcare that requires a balance between being a patient educator and patient advocate when discussing disability. This study aimed to determine genetic counselors' implicit attitudes toward disability, and identify what factors affect these implicit attitudes. Case scenarios involving disability were used to examine hypothetical estimates of time spent on different topics within a genetic counseling session. Implicit attitudes were measured using the validated Disability Attitudes Implicit Association Test (DA-IAT), and personal/professional experiences with disability were assessed. Analysis of 382 respondents of the electronic survey revealed that personal experience with individuals with disabilities was not significantly associated with implicit attitudes scores. In addition, results demonstrated that genetic counselors have a stronger bias toward ability (D  = 0.62, D = ±0.45) compared to previous participants of the DA-IAT (p < .005). Practice specialty, length of time in the genetic counseling field, or whether the participant was a practicing counselor or genetic counseling student were not associated with implicit attitudes scores. The bias toward ability observed across practice specialties may be due to shared factors that influence interest in this field, but may also potentially reflect the inability of the DA-IAT to capture the complexity of genetic counselors' relationship to individuals with disability. This study emphasizes the importance of incorporating patients' individual definitions of disability into genetic counseling sessions and building an environment of patient advocacy and education around their personal perspectives and needs.
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http://dx.doi.org/10.1002/jgc4.1160DOI Listing
December 2019

Response to Johansen Taber et al.

Genet Med 2019 11 3;21(11):2660-2661. Epub 2019 Jun 3.

Genetic Support Foundation, Olympia, WA, USA.

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http://dx.doi.org/10.1038/s41436-019-0556-4DOI Listing
November 2019

Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendations.

Genet Med 2019 10 3;21(10):2285-2292. Epub 2019 Apr 3.

Departments of Obstetrics and Gynecology and Maternal Fetal Medicine, Baylor University Medical Center, Dallas, TX, USA.

Purpose: Noninvasive prenatal screening (NIPS) for fetal aneuploidy via cell-free DNA has been commercially available in the United States since 2011. In 2016, the American College of Medical Genetics and Genomics (ACMG) issued a position statement with specific recommendations for testing laboratories. We sought to evaluate adherence to these recommendations.

Methods: We focused on commercial laboratories performing NIPS testing in the United States as of 1 January 2018. Sample laboratory reports and other materials were scored for compliance with ACMG recommendations. Variables scored for common and sex chromosome aneuploidy detection included detection rate, specificity, positive and negative predictive value, and fetal fraction. Labs that performed analysis of copy-number variants and results for aneuploidies other than those commonly reported were identified. Available patient education materials were similarly evaluated.

Results: Nine of 10 companies reported fetal fraction in their reports, and 8 of 10 did not offer screening for autosomal aneuploidies beyond trisomy 13, 18, and 21. There was inconsistency in the application and reporting of other measures recommended by ACMG.

Conclusions: Laboratories varied in the degree to which they met ACMG position statement recommendations. No company adhered to all laboratory guidance.
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http://dx.doi.org/10.1038/s41436-019-0485-2DOI Listing
October 2019

Beyond the Brochure: Innovations in Clinical Counseling Practices for Prenatal Genetic Testing Options.

J Perinat Neonatal Nurs 2019 Jan/Mar;33(1):12-25

Department of Obstetrics and Gynecology, Baylor College of Medicine (Ms Knutzen); and Genetic Support Foundation (Ms Stoll).

Remarkable advancements related to preconception and prenatal genetic screening have emerged in recent years. While technology and testing options are more numerous and complex; fundamental genetic counseling issues remain the same. It is essential that with any prenatal genetic testing, women have an opportunity to make informed and autonomous decisions that are consistent with their personal needs and values. Opportunities to discuss testing options, including potential benefits and limitations, are often limited in obstetric visits due to time constraints or lack of sufficient provider education. As genetic testing is not considered a routine component of antepartum care, review of information regarding testing options is imperative so women can decide which, if any, testing to pursue. Developing new strategies to address the growing complexity of prenatal testing while ensuring provider education is accurate is crucial in imparting evidence-based care. This article will arm providers with the knowledge needed to educate women about currently available prenatal genetic screening and diagnostic tests along with guidance on the essential elements and importance of genetic counseling.
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http://dx.doi.org/10.1097/JPN.0000000000000374DOI Listing
December 2019

Optimizing use of existing prenatal genetic tests: Screening and diagnostic testing for aneuploidy.

Semin Perinatol 2018 08 26;42(5):296-302. Epub 2018 Jul 26.

Professor of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, Box 0132, 550 16th St, 7th Floor, San Francisco, CA 94143, USA. Electronic address:

Screening and diagnostic testing for detection of fetal aneuploidy has been an integral part of prenatal care for over three decades. The recent introduction of new technologies, such as cell free DNA (cfDNA) screening and preimplantation genetic screening, has created increased complexity for obstetrical care providers. Inconsistencies among the professional society recommendations have caused confusion and disparities in practice. As we work to responsibly incorporate new technologies, clear guidelines with consensus among relevant professional societies are needed. In January of 2017, a workshop was convened during the Society for Maternal-Fetal Medicine Pregnancy Meeting. Representatives from many stakeholder groups were present with the goal to develop a framework for introduction of new genetic tests into clinical practice. This paper provides consensus recommendations from this workshop on the use of existing prenatal screening and diagnostic testing for aneuploidy.
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http://dx.doi.org/10.1053/j.semperi.2018.07.014DOI Listing
August 2018

The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine.

Am J Med Genet C Semin Med Genet 2018 03 7;178(1):24-37. Epub 2018 Mar 7.

St. Vincent Hospital, Indianapolis, Indiana.

Precision medicine aims to approach disease treatment and prevention with consideration of the variability in genes, environment, and lifestyle for each person. This focus on the individual is also key to the practice of genetic counseling, whereby foundational professional values prioritize informed and autonomous patient decisions regarding their genetic health. Genetic counselors are ideally suited to help realize the goals of the precision medicine. However, a limited genetic counseling workforce at a time in which there is a rapidly growing need for services is challenging the balance of supply and demand. This article provides historical context to better understand what has informed traditional models of genetic counseling and considers some of the current forces that require genetic counselors to adapt their practice. New service delivery models can improve access to genetic healthcare by overcoming geographical barriers, allowing genetic counselors to see a higher volume of patients and supporting other healthcare providers to better provide genetic services to meet the needs of their patients. Approaches to genetic counseling service delivery are considered with a forward focus to the challenges and opportunities that lie ahead for genetic counselors in this age of precision health.
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http://dx.doi.org/10.1002/ajmg.c.31602DOI Listing
March 2018

Conflicts of interest in genetic counseling: persistent underlying questions.

Genet Med 2018 09;20(9):1096-1097

Institute for Health & Aging, University of California, San Francisco, San Francisco, USA, California.

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http://dx.doi.org/10.1038/gim.2017.235DOI Listing
September 2018

Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide.

J Womens Health (Larchmt) 2017 07 7;26(7):755-761. Epub 2017 Apr 7.

11 Department of Obstetrics and Gynecology, Mayo Clinic , Rochester, Minnesota.

Aims: In September, 2015, Mayo Clinic convened a panel of national thought leaders on prenatal screening, medical genetics, and obstetrics and gynecology practice.

Results: During the 2-day symposium, participants discussed the implications of the shift toward broader prenatal screening using cell-free placental DNA in maternal serum (cfDNA screening). Key topics included challenges around the pace of change in the prenatal screening market, uncertainty around reimbursement, meeting the need for patient counseling, and potential challenges in interpreting and returning cfDNA screening results.

Innovation: Here, we describe the challenges discussed and offer clinical recommendations for practices who are working to meet them.

Conclusion: As the spread of prenatal genetic screening continues, providers will increasingly need to update their practice to accommodate new screening modalities.
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http://dx.doi.org/10.1089/jwh.2016.6098DOI Listing
July 2017

Conflicts of interest in genetic counseling: acknowledging and accepting.

Genet Med 2017 08 26;19(8):864-866. Epub 2017 Jan 26.

Institute for Health &Aging, University of California, San Francisco, San Francisco, California, USA.

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http://dx.doi.org/10.1038/gim.2016.216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529257PMC
August 2017

Pre- and post-test genetic counseling for chromosomal and Mendelian disorders.

Semin Perinatol 2016 Feb 21;40(1):44-55. Epub 2015 Dec 21.

Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Genetic carrier screening, prenatal screening for aneuploidy, and prenatal diagnostic testing have expanded dramatically over the past 2 decades. Driven in part by powerful market forces, new complex testing modalities have become available after limited clinical research. The responsibility for offering these tests lies primarily on the obstetrical care provider and has become more burdensome as the number of testing options expands. Genetic testing in pregnancy is optional, and decisions about undergoing tests, as well as follow-up testing, should be informed and based on individual patients' values and needs. Careful pre- and post-test counseling is central to supporting informed decision-making. This article explores three areas of technical expansion in genetic testing: expanded carrier screening, non-invasive prenatal screening for fetal aneuploidies using cell-free DNA, and diagnostic testing using fetal chromosomal microarray testing, and provides insights aimed at enabling the obstetrical practitioner to better support patients considering these tests.
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http://dx.doi.org/10.1053/j.semperi.2015.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826755PMC
February 2016

Why 99% may not be as good as you think it is: limitations of screening for rare diseases.

J Matern Fetal Neonatal Med 2016 16;29(7):1187-9. Epub 2015 Jul 16.

b Genetic Support Foundation , Olympia , WA , USA.

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http://dx.doi.org/10.3109/14767058.2015.1039977DOI Listing
December 2016

Expanded carrier screening in reproductive medicine-points to consider: a joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine.

Obstet Gynecol 2015 Mar;125(3):653-662

American College of Medical Genetics and Genomics, Bethesda, Maryland; the American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine, Washington, DC; the National Society of Genetic Counselors, Chicago, Illinois; and the Perinatal Quality Foundation, Oklahoma City, Oklahoma.

The Perinatal Quality Foundation and the American College of Medical Genetics and Genomics, in association with the American College of Obstetricians and Gynecologists, the Society for Maternal-Fetal Medicine, and the National Society of Genetic Counselors, have collaborated to provide education for clinicians and laboratories regarding the use of expanded genetic carrier screening in reproductive medicine. This statement does not replace current screening guidelines, which are published by individual organizations to direct the practice of their constituents. As organizations develop practice guidelines for expanded carrier screening, further direction is likely. The current statement demonstrates an approach for health care providers and laboratories who wish to or who are currently offering expanded carrier screening to their patients.
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http://dx.doi.org/10.1097/AOG.0000000000000666DOI Listing
March 2015

Identifying emotional and behavioral risk among gifted and nongifted children: A multi-gate, multi-informant approach.

Sch Psychol Q 2015 Jun 11;30(2):197-211. Epub 2014 Aug 11.

School Psychology Program, College of Education, University of Arizona.

The purpose of the current investigation was to compare 1,206 gifted and nongifted elementary students on the identification of emotional and behavioral risk (EBR) as rated by teachers and parents using a multigate, multi-informant approach to assessment. The Parent and Teacher Behavioral Assessment System for Children, Second Edition (BASC-2) and the Behavioral and Emotional Screening System were used to assess behavioral functioning as rated by teachers and parents. There were significant differences between the number of gifted and nongifted children demonstrating emotional and behavioral risk, with parents and teachers identifying a higher number of boys and nongifted children as at risk. Among children demonstrating EBR, gifted children demonstrated elevated internalizing behaviors as rated by parents. Gifted students demonstrated higher academic performance regardless of risk level, suggesting higher cognitive abilities may be one of several protective factors that serve to attenuate the development of other social, emotional, or behavioral concerns. Implications for practice and future research needs are discussed.
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http://dx.doi.org/10.1037/spq0000080DOI Listing
June 2015

Noninvasive prenatal testing: limitations and unanswered questions.

Genet Med 2014 Apr 5;16(4):281-5. Epub 2013 Sep 5.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Madigan Army Medical Center, Tacoma, Washington, USA.

The clinical use of noninvasive prenatal testing to screen high-risk patients for fetal aneuploidy is becoming increasingly common. Initial studies have demonstrated high sensitivity and specificity, and there is hope that these tests will result in a reduction of invasive diagnostic procedures as well as their associated risks. Guidelines on the use of this testing in clinical practice have been published; however, data on actual test performance in a clinical setting are lacking, and there are no guidelines on quality control and assurance. The different noninvasive prenatal tests employ complex methodologies, which may be challenging for health-care providers to understand and utilize in counseling patients, particularly as the field continues to evolve. How these new tests should be integrated into current screening programs and their effect on health-care costs remain uncertain.
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http://dx.doi.org/10.1038/gim.2013.126DOI Listing
April 2014

Questioning the costs and benefits of non-invasive prenatal testing.

J Matern Fetal Neonatal Med 2014 Apr 31;27(6):633-4. Epub 2013 Jul 31.

Madigan Army Medical Center, Department of Obstetrics and Gynecology, Tacoma , WA , USA.

Prenatal testing for Down syndrome through the use of non-invasive prenatal testing (NIPT) has been increasingly implemented in clinical practice and a recent cost analysis suggests that NIPT is cost effective when compared to other screening modalities in high risk populations. However, this anaylsis makes many assumptions regarding uptake of testing and pregnancy termination, which cannot be applied to all populations in the United States. Additionally, this cost analysis, which hinges on fewer Down syndrome births, does not align with the goals of prenatal testing to support autonomous and value consistent decisions. NIPT is an expensive new technology and more careful analysis is needed to determine the impact of NIPT on outcomes and overall healthcare costs.
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http://dx.doi.org/10.3109/14767058.2013.820699DOI Listing
April 2014

Improving knowledge about prenatal screening options: can group education make a difference?

J Matern Fetal Neonatal Med 2013 Dec 21;26(18):1799-803. Epub 2013 Jun 21.

Madigan Army Medical Center, Department of OB/GYN , Tacoma, WA , USA.

Objective: To determine if the addition of group education regarding maternal serum screening and diagnostic testing for aneuploidy and neural tube defects improves patient knowledge and affects the uptake of testing compared to individual education alone.

Method: We conducted a prospective study of 443 obstetric patients to assess knowledge of prenatal testing options based on individual provider counseling (n = 331) or provider counseling with supplemental group education (n = 112). We used a chi-square test to compare the number of correct survey answers between the two groups.

Results: There was no difference in baseline knowledge. Patients receiving group education showed a statistically significant improvement in knowledge. After initiation of group education, the uptake of maternal serum screening declined while the uptake of amniocentesis remained unchanged.

Conclusion: Group education in addition to individual counseling to discuss prenatal testing options appears to be effective in improving knowledge compared to individual provider counseling alone. Improved knowledge may affect uptake of prenatal screening tests due to more informed decision making.
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http://dx.doi.org/10.3109/14767058.2013.804504DOI Listing
December 2013