Publications by authors named "Claire N Singletary"

13 Publications

  • Page 1 of 1

Hypoglycemia in mitochondrial disorders.

Mitochondrion 2021 Mar 16;58:179-183. Epub 2021 Mar 16.

McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, TX, USA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, TX, USA; The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, Houston, TX, USA. Electronic address:

Diabetes and hyperglycemia are common features of mitochondrial disorders. This study investigates the frequency of non-iatrogenic hypoglycemia in individuals with these disorders. Of 116 patients, 22 (18.97%) experienced at least two episodes of hypoglycemia. This rate is significantly higher (p < 0.05) than the 6% seen in the non-diabetic, general population. Neonatal readings were 30 mg/dL lower than non-neonatal readings. As hypoglycemia appears to occur frequently in individuals with mitochondrial disorders, with lower blood glucose levels in the neonatal period, early and continued monitoring of blood glucose is necessary. Also, mitochondrial disorders should be considered in cases of recurrent hypoglycemia.
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http://dx.doi.org/10.1016/j.mito.2021.03.002DOI Listing
March 2021

Exploring the predicted yield of prenatal testing by evaluating a postnatal population with structural abnormalities using a novel mathematical model.

Prenat Diagn 2021 Feb 4;41(3):354-361. Epub 2020 Nov 4.

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

Objective: To determine the yield of prenatal testing and screening options after identification of fetal structural abnormalities using a novel mathematical model.

Method: A retrospective chart review was conducted to collect structural abnormality and genetic testing data on infants who were evaluated postnatally by a medical geneticist. A novel mathematical model was used to determine and compare the predicted diagnostic yields of prenatal testing and screening options.

Results: Over a quarter of patients with at least one structural abnormality (28.1%, n = 222) had a genetic aberration identified that explained their phenotype. Chromosomal microarray (CMA) had the highest predicted diagnostic yield (26.8%, P < .001). Karyotype (20.8%) had similar yields as genome wide NIPT (21.2%, P = .859) and NIPT with select copy number variants (CNVs) (17.9%, P = .184). Among individuals with an isolated structural abnormality, whole exome sequencing (25.9%) and CMA (14.9%) had the highest predicted yields.

Conclusion: This study introduces a novel mathematical model for predicting the potential yield of prenatal testing and screening options. This study provides further evidence that CMA has the highest predicted diagnostic yield in cases with structural abnormalities. Screening with expanded NIPT options shows potential for patients who decline invasive testing, but only in the setting of adequate pre-test counseling.
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http://dx.doi.org/10.1002/pd.5858DOI Listing
February 2021

It takes two: uptake of carrier screening among male reproductive partners.

Prenat Diagn 2020 02 2;40(3):311-316. Epub 2019 Dec 2.

Department of Obstetrics, Gynecology, and Reproductive Sciences, McGovern Medical School at UTHealth, Houston, TX, USA.

Objective: To describe uptake of carrier screening by male reproductive partners of prenatal and preconception patients.

Methods: A retrospective database review of all prenatal and preconception patients seen for genetic counseling in Maternal Fetal Medicine clinics was performed. Descriptive statistics and chi-square analysis were used on the data set.

Results: Within the study period, 6087 patients were seen for genetic counseling, of whom 661 were identified as a carrier of an autosomal recessive disorder by their referring provider or genetic counselor. Despite guidelines recommending partner testing for risk clarification when a woman is known to be a carrier of an autosomal recessive condition, only 41.5% male partners elected carrier screening to clarify the couple's reproductive risk, with a majority of males (75%) having screening consecutively. Of all assessed variables, the only significant predictors of male carrier screening uptake were female parity and earlier gestational age (p < .0001, and p = .001, respectively).

Conclusion: With less than half of male partners pursuing carrier screening when indicated, its utility becomes severely diminished. More research is needed to explore reasons why males elect or decline carrier screening.
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http://dx.doi.org/10.1002/pd.5588DOI Listing
February 2020

Prenatal chromosomal microarray uptake with invasive prenatal diagnosis: How many patients take the leap?

Prenat Diagn 2018 09 17;38(10):748-754. Epub 2018 Jul 17.

Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School at the University of Texas Health Science Center at Houston, Houston, Texas.

Objective: Characterize the uptake of chromosomal microarray analysis (CMA) among women undergoing invasive prenatal diagnosis at a large academic institution over a 4-year time period.

Methods: Retrospective database review of women who underwent invasive prenatal diagnosis via chorionic villus sampling (CVS) or amniocentesis. Entries were reviewed for demographic and clinical information.

Results: Nine hundred forty-six diagnostic procedures were performed at our institution over a 4-year time period including 259 CVS and 687 amniocentesis procedures. Overall, 32% elected CMA, with a significant increase in uptake over time. Women with Medicaid/CHIP insurance were more likely to elect CMA than those with private insurance (OR = 1.59, 95% CI, 1.18-2.14), while multigravida women were less likely than primigravidas to elect CMA (P = 0.003). Women with ultrasound findings were more likely to elect CMA than any other indication. Those with structural abnormalities in multiple systems (OR = 3.75, 95% CI, 1.60-8.79) or abnormalities in a single system (OR = 3.22, 95% CI, 1.47-7.05) were more likely to elect CMA than with any other types of ultrasound findings.

Conclusion: The uptake of CMA significantly increased over a 4-year period at a large academic institution. Women with ultrasound indications, specifically structural abnormalities, are the most likely to elect CMA.
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http://dx.doi.org/10.1002/pd.5324DOI Listing
September 2018

Attitudes Toward and Uptake of Prenatal Genetic Screening and Testing in Twin Pregnancies.

J Genet Couns 2018 09 10;27(5):1238-1247. Epub 2018 Mar 10.

Genetic Counseling Program, University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences, 6431 Fannin Street, MSB 3.142, Houston, TX, 77030, USA.

The rate of twinning is rising and since the introduction of non-invasive prenatal testing, interest in and uptake of genetic screening and testing in twin pregnancies has not been investigated. This study aimed to explore the attitudes toward and uptake of current prenatal genetic screening and diagnostic testing options for fetal aneuploidy in twin pregnancies. Women being seen for genetic counseling with twin gestations were recruited for participation in a descriptive study with questionnaire (n = 42) and semi-structured phone interview (n = 15). Women were significantly more in favor of screening than diagnostic testing (p = 0.049). Sixty-nine (n = 25) percent elected screening, while one participant had a diagnostic procedure. Women were interested in screening for preparation or reassurance despite having concerns about accuracy and uncertainty. Most women (86%) felt they would make the same decision in a singleton pregnancy. Despite this, 48% cited twin pregnancy as influential to some degree. Information learned from providers, past experiences, and family and friends were also cited as influencing and anchoring factors, suggesting that tailoring prenatal genetic counseling sessions for twins might parallel that of singletons. No significant differences between natural and assisted conception patients were found. Although it did not alter patient decisions, genetic counseling was used as a platform to raise concerns and gather information.
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http://dx.doi.org/10.1007/s10897-018-0246-4DOI Listing
September 2018

Relieving the Bottleneck: An Investigation of Barriers to Expansion of Supervision Networks at Genetic Counseling Training Programs.

J Genet Couns 2018 02 6;27(1):241-251. Epub 2017 Sep 6.

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

Rapid growth in the demand for genetic counselors has led to a workforce shortage. There is a prevailing assumption that the number of training slots for genetic counseling students is linked to the availability of clinical supervisors. This study aimed to determine and compare barriers to expansion of supervision networks at genetic counseling training programs as perceived by supervisors, non-supervisors, and Program Directors. Genetic counselors were recruited via National Society of Genetic Counselors e-blast; Program Directors received personal emails. Online surveys were completed by 216 supervisors, 98 non-supervisors, and 23 Program Directors. Respondents rated impact of 35 barriers; comparisons were made using Kruskal-Wallis and Wilcoxon ranked sum tests. Half of supervisors (51%) indicated willingness to increase supervision. All non-supervisors were willing to supervise. However, all agreed that being too busy impacted ability to supervise, highlighted by supervisors' most impactful barriers: lack of time, other responsibilities, intensive nature of supervision, desire for breaks, and unfilled positions. Non-supervisors noted unique barriers: distance, institutional barriers, and non-clinical roles. Program Directors' perceptions were congruent with those of genetic counselors with three exceptions they rated as impactful: lack of money, prefer not to supervise, and never been asked. In order to expand supervision networks and provide comprehensive student experiences, the profession must examine service delivery models to increase workplace efficiency, reconsider the supervision paradigm, and redefine what constitutes a countable case or place value on non-direct patient care experiences.
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http://dx.doi.org/10.1007/s10897-017-0142-3DOI Listing
February 2018

Patient Perception of Negative Noninvasive Prenatal Testing Results.

AJP Rep 2016 Oct;6(4):e391-e406

Genetic Counseling Program, University of Texas Graduate School of Biomedical Sciences at Houston, Houston, Texas; Department of Pediatrics, McGovern Medical School at UT Health, Houston, Texas; Department of Obstetrics, Gynecology and Reproductive Sciences, McGovern Medical School at UT Health, Houston, Texas.

 To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result.  Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed.  We conducted a prospective cohort study to assess patient understanding of the residual risk for aneuploidy after receiving a negative NIPT result. Ninety-four participants who had prenatal genetic counseling and a subsequent negative NIPT were surveyed.  There was a significant decline in general level of worry after a negative NIPT result ( = <0.0001). The majority of participants (61%) understood the residual risk post NIPT. Individuals with at least four years of college education were more likely to understand that NIPT does not eliminate the chance of trisomy 13/18 ( = 0.012) and sex chromosome abnormality ( = 0.039), and were more likely to understand which conditions NIPT tests for ( = 0.021), compared to those women with less formal education.  These data demonstrate that despite the relatively recent implementation of NIPT into obstetric practice, the majority of women are aware of its limitations after receiving genetic counseling. However, clinicians may need to consider alternative ways to communicate the limitations of NIPT to those women with less formal education to ensure understanding.
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http://dx.doi.org/10.1055/s-0036-1594243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5125929PMC
October 2016

2013 Review and Update of the Genetic Counseling Practice Based Competencies by a Task Force of the Accreditation Council for Genetic Counseling.

J Genet Couns 2016 10 23;25(5):868-79. Epub 2016 Jun 23.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.

The first practice based competencies (PBCs) for the field of genetic counseling were adopted by the American Board of Genetic Counseling (ABGC), 1996. Since that time, there has been significant growth in established and new work settings (clinical and non-clinical) and changes in service delivery models and the roles of genetic counselors. These changes prompted the ABGC to appoint a PBC Task Force in 2011 to review the PBCs with respect to their current relevance and to revise and update them as necessary. There are four domains in the revised PBCs: (I) Genetics Expertise and Analysis (II) Interpersonal, Psychosocial and Counseling Skills (III) Education and (IV) Professional Development and Practice. There are 22 competencies, each clarified with learning objectives or samples of activities and skills; a glossary is included. New competencies were added that address genomics, genetic testing and genetic counselors' roles in risk assessment, education, supervision, conducting research and presenting research options to patients. With PBCs serving as the pre-defined abilities or outcomes of training, graduating genetic counselors will be well prepared to enter the field with a minimum level of skills and abilities. A description of the Task Force's work, key changes and the 2013 PBCs are presented herein.
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http://dx.doi.org/10.1007/s10897-016-9984-3DOI Listing
October 2016

Spiritual Exploration in the Prenatal Genetic Counseling Session.

J Genet Couns 2016 10 15;25(5):923-35. Epub 2016 Jan 15.

Genetic Counseling Program, University of Texas Graduate School of Biomedical Sciences, 6431 Fannin Street, MSB 3.142, Houston, TX, 77030, USA.

Religion and spirituality (R/S) are important components of many individuals' lives, and spirituality is often employed by women coping with pregnancy complications. To characterize how prenatal genetic counselors might address spiritual issues with patients, 283 English and Spanish speaking women receiving prenatal genetic counseling in Houston, Texas were surveyed post-counseling using both the Brief RCope and questions regarding interest in spiritual exploration. Genetic counselors were concurrently surveyed to identify religious/spiritual language used within sessions and perceived importance of R/S. Genetic counselors were significantly more likely to identify R/S as important to a patient when patients used religious/spiritual language (p < 0.001). Conversely, when no religious/spiritual terms were present, the counselor felt uncertain about the importance of R/S 63 % of the time. However, 67 % of patients reported that they felt comfortable sharing their faith as it relates to their pregnancy, and 93 % reported using positive religious coping. Less than 25 % reported a desire for overt religious actions such as prayer or scripture exploration. Therefore, most patients' desires for spiritual exploration center in the decision making and coping processes that are in line with the genetic counseling scope of practice. Thus, counselors should feel empowered to incorporate spiritual exploration into their patient conversations.
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http://dx.doi.org/10.1007/s10897-015-9920-yDOI Listing
October 2016

Developing a Model of Advanced Training to Promote Career Advancement for Certified Genetic Counselors: An Investigation of Expanded Skills, Advanced Training Paths, and Professional Opportunities.

J Genet Couns 2016 08 7;25(4):625-34. Epub 2016 Jan 7.

Departments of Pediatrics and of Obstetrics, Gynecology, and Reproductive Sciences, University of Texas Health, Houston, TX, USA.

There are currently multiple paths through which genetic counselors can acquire advanced knowledge and skills. However, outside of continuing education opportunities, there are few formal training programs designed specifically for the advanced training of genetic counselors. In the genetic counseling profession, there is currently considerable debate about the paths that should be available to attain advanced skills, as well as the skills that might be needed for practice in the future. The Association of Genetic Counseling Program Directors (AGCPD) convened a national committee, the Committee on Advanced Training for Certified Genetic Counselors (CATCGC), to investigate varied paths to post-master's training and career development. The committee began its work by developing three related grids that view career advancement from the viewpoints of the skills needed to advance (skills), ways to obtain these skills (paths), and existing genetic counselor positions that offer career change or advancement (positions). Here we describe previous work related to genetic counselor career advancement, the charge of the CATCGC, our preliminary work in developing a model through which to view genetic counselor advanced training and career advancement opportunities, and our next steps in further developing and disseminating the model.
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http://dx.doi.org/10.1007/s10897-015-9916-7DOI Listing
August 2016

BRCAPRO 6.0 Model Validation in Male Patients Presenting for BRCA Testing.

Oncologist 2015 Jun 6;20(6):593-7. Epub 2015 May 6.

University of Texas MD Anderson Cancer Center, Houston, Texas, USA; Baylor Charles A. Sammons Cancer Center, Baylor University Medical Center, Dallas, Texas, USA; University of Texas Health and Science Center at Houston, Houston, Texas, USA

Background: BRCAPRO is a risk assessment model to estimate the risk of carrying a BRCA mutation. BRCA mutation carriers are at higher risk of developing breast, ovarian, pancreatic, and prostate cancer. BRCAPRO was developed for women and found to be superior to other risk assessment models. The present study evaluated the validity of BRCAPRO at predicting the risk of male patients carrying a BRCA mutation.

Patients And Methods: A total of 146 men who presented for genetic counseling and testing from February1997 to September 2011, and their test results were included in the present study. BRCAPRO risk assessment for all patients was calculated using the BRCAPRO clinical CancerGene assessment software.

Results: The mean age at presentation was 57 years. Of the 146 patients, 48 had breast cancer, 18 had pancreatic cancer, 39 had prostate cancer, 27 had other primary cancers, and 37 had no cancer. Fifty patients (34%) tested positive for a BRCA mutation (22 BRCA1, 27 BRCA2, and 1 BRCA1 and BRCA2). The mean BRCAPRO score for all patients was 24.96%. The BRCAPRO score was significantly higher for patients who tested positive for a BRCA mutation (46.19% vs. 13.9%, p < .01). The area under the receiver operating characteristics curve was 0.83 for all patients for the BRCAPRO score to predict the risk of carrying a BRCA mutation. At a cutoff point of 30.02%, the sensitivity, specificity, positive predictive value, and negative predictive value were 0.74, 0.81, 0.67, and 0.86, respectively.

Conclusion: BRCAPRO appears to be a valid risk assessment tool for determining the risk of carrying a BRCA mutation in men.

Implications For Practice: Men carrying genetic mutations in the BRCA gene have a greater risk than the general population of developing certain types of cancer, including breast, pancreatic, and prostate cancer. BRCAPRO is a risk assessment model that predicts the risk of carrying a BRCA mutation. The present study aimed at validating BRCAPRO for use with men seen for genetic counseling, whether affected by cancer or not. The data available for 146 patients revealed that BRCAPRO was effective at identifying patients at risk of BRCA mutation. These findings could help in identifying a subset of high-risk patients who should proceed to genetic testing.
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http://dx.doi.org/10.1634/theoncologist.2014-0425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4571779PMC
June 2015

Influence of anchoring on miscarriage risk perception associated with amniocentesis.

J Genet Couns 2015 Apr 17;24(2):278-84. Epub 2014 Sep 17.

Baptist Memorial Health Care Corporation, 2927 Tishomingo Lane, Memphis, TN, 38111, USA,

One factor women consider when deciding whether to pursue amniocentesis is the risk of miscarriage. People use mechanisms like anchoring, or the prior belief regarding the magnitude of risk, as a frame of reference for new information. This study aimed to determine a woman's perception of miscarriage risk associated with amniocentesis before and after genetic counseling and to determine what factors anchor a woman's perception of miscarriage risk. One hundred thirteen women being seen for prenatal genetic counseling and possible amniocentesis at six Houston clinics participated in the two-part anonymous survey. While most women (56.7 %) perceived the risk as low or average pre-counseling and indicated the numeric risk of amniocentesis as <1 %, significantly more patients (73 %) correctly identified the numeric risk as <1 % post-counseling (p < 0.0001). However, the majority of patients' qualitative risk perception did not change after the genetic counseling session (60 %). Those who changed their feeling about the risk after counseling showed a decreased perception of the risk (p < 0.0001). Participants who elected amniocentesis had a significantly lower perception of the risk (p = 0.017) whereas those who declined amniocentesis were more likely to view the risk as high (p = 0.004). The only two anchoring factors that had an effect were having a friend or relative with a personal or family history of a genetic disorder (p = 0.001) and having a child already (p = 0.038); both were associated with a lower risk perception. The lack of significant factors may reflect the uniqueness of each patient's risk assessment framework and reinforces the importance of genetic counseling to elucidate individual concerns, particularly as non-invasive prenatal testing becomes more widely available and further complicates the prenatal testing landscape.
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http://dx.doi.org/10.1007/s10897-014-9761-0DOI Listing
April 2015

The impact of noninvasive prenatal testing on the practice of maternal-fetal medicine.

Am J Perinatol 2014 Oct 11;31(9):759-64. Epub 2013 Dec 11.

Department of Obstetrics, Gynecology, and Reproductive Sciences and Pediatrics, The University of Health Science Center at Houston, Houston, Texas.

Objective: Noninvasive prenatal testing (NIPT) via cell-free fetal DNA in the maternal circulation is a highly sensitive and specific new testing option. The objective of this study was to determine the impact of NIPT on the uptake of first trimester screening (FTS) and invasive genetic testing.

Study Design: Uptake of prenatal testing was investigated in women referred for advanced maternal age or abnormal screening to the University of Texas Health Maternal-Fetal Medicine Clinics in Houston. Patients who presented from August to November 2011, before clinical introduction of NIPT, were compared with patients who presented from March to June 2012, after its introduction.

Results: In patients referred between 14 and 22 weeks gestational age, invasive genetic testing was significantly reduced following the introduction of NIPT (35.4 vs. 17.9%, p < 0.05). For patients referred at < 14 weeks gestational age, FTS was significantly reduced with NIPT introduction (89.1 vs. 59.1%, p < 0.05); however, invasive genetic testing was not significantly different (20.0 vs. 14.0%, p > 0.05).

Conclusion: NIPT has made an impact on the practice of maternal-fetal medicine by significantly decreasing the number of second trimester diagnostic tests performed. In addition, patients interested in early screening information appear to prefer the higher sensitivity and specificity of NIPT.
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http://dx.doi.org/10.1055/s-0033-1359717DOI Listing
October 2014