Stacey Pereira Lab

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About the Lab

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Dr. Pereira is an associate professor in the Center for Medical Ethics and Health Policy. Her research focuses on social and ethical issues in genomics, with particular emphasis on the impact of integrating genomics into the clinical care of different populations, including newborns, healthy adults, and military personnel. She also has several projects exploring the use of polygenic risk scores across a variety of contexts, including clinical care of cardiology patients, pre-implantation embryo screening, and child and adolescent psychiatry. Additional research interests include issues related to banking, sharing, and research use of human biospecimens.

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Collaborators

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Current Projects

Project Description

Recently, more than 500 genomic loci associated with various psychiatric disorders, including schizophrenia, depression, and autism spectrum disorders, have been identified. This makes it possible to generate polygenic risk scores (PRS) to stratify individuals by risk for different psychiatric disorders compared to the general population. As a prediction tool, psychiatric PRS would likely be most valuable when applied to individuals before the onset of illness. In about 75% of cases, the onset of psychiatric disorders or prodromal features occurs by early adulthood making psychiatric PRS likely most useful for children and adolescents.

PRS have the potential to improve early identification, and lead to enhanced monitoring and interventions to potentially prevent or delay onset, and minimize morbidity and risk for suicide, the second leading cause of death in the United States in ages 10–24. Despite their promise, PRS could be especially perilous in the context of psychiatry, and our preliminary work has found that PRS are already being used in child and adolescent psychiatry.

There is significant stigma around mental illness, and a history of misuse of “predictors” of “undesirable” behaviors or mental illness in the US. Thus, psychiatric PRS could be another tool used against patients with psychiatric disorders. Further, psychiatric PRS are arguably the first tool with the capacity to generate risk predictions about psychiatric disorders for any individual and there are key legal gaps in the protection of the privacy of this information and the prevention of genetic discrimination.

We will use a mixed-methods approach that includes qualitative, quantitative, and legal analysis to:

Give voice to stakeholders (i.e., patients, parents/caregivers, clinicians) by examining their perspectives regarding whether psychiatric PRS should be used and, if so, how.
Examine the legal and regulatory landscape to identify what safeguards may be necessary.

The long-term goal of this research is to develop ethically-justified and empirically-informed guidelines to address the ethical challenges raised by the use of psychiatric PRS with children and adolescents.

Building on our NIH-funded Child and Adolescent Psychiatric Genetics Survey (CAPGS), which examined child and adolescent psychiatrists’ perspectives about PRS (3R00HG008689-05S1).

Grant: R01MH128676-01

Publications

Crowley JJ, Cappi C, Ochoa-Panaifo ME, et al. Latin American Trans-ancestry INitiative for OCD genomics (LATINO): Study protocol [published online ahead of print, 2023 Nov 9]. Am J Med Genet B Neuropsychiatr Genet. 2023;e32962. doi:10.1002/ajmg.b.32962

Miner SA, Pereira S. The Need for Diverse Empirical Data to Inform the Use of Polygenic Risk Scores in Prenatal Screening. Am J Bioeth. 2023;23(3):39-41. doi:10.1080/15265161.2023.2169396

Pereira S, Muñoz KA, Small BJ, et al. Psychiatric polygenic risk scores: Child and adolescent psychiatrists' knowledge, attitudes, and experiences. [published online ahead of print, 2022 Jul 6]. Am J Med Genet B Neuropsychiatr Genet. 2022;10.1002/ajmg.b.32912. doi:10.1002/ajmg.b.32912.

Merner AR, Trotter PM, Ginn LA, et al. Psychiatric polygenic risk scores: Experience, hope for utility, and concerns among child and adolescent psychiatrists. Psychiatry Res. 2024;339:116080. doi:10.1016/j.psychres.2024.116080

Soda T, Merner AR, Small BJ, et al. Child and adolescent psychiatrists' use, attitudes, and understanding of genetic testing and pharmacogenetics in clinical practice. Psychiatry Res. 2023;325:115246. doi:10.1016/j.psychres.2023.115246

Project Description

The original BabySeq Project was a first-of-its-kind randomized clinical trial designed pilot study to assess the impact of using genomic sequencing in routine newborn care.

The BabySeq2 Project is an implementation study that builds from that pilot study, as well as the existing newborn screening program. Through this public health initiative newborns born in the U.S. receive a heel stick blood test shortly after birth in order to screen for approximately 30 heritable, treatable conditions such as blood, endocrine, and metabolic disorders. Newborn genomic sequencing has the potential to supplement and expand existing newborn screening by screening for thousands of disorders that newborns could be at risk for developing during childhood. Earlier diagnosis of these conditions could in turn lead to specific screening, surveillance, and treatment options, allowing for more personalized and preventive healthcare.

The study plans to enroll and randomize to receive genome sequencing or be in the control group (receive routine newborn care) 500 newborns in Boston, MA; New York City, NY; and Birmingham, AL and prioritize inclusion of a diverse, nationally representative cohort of families.

Results from the genome sequencing will be shared with the baby’s parents and pediatrician. Results may include risks that could affect their medical care in childhood as well as a few highly actionable adult-onset conditions that could impact parents’ health

A key aspect will be community engagement with local partners and a stakeholder board. Parents at each site will be interviewed about their perspectives on genomic research in English or Spanish. Parents will also be asked to complete three surveys over the first year of the study about their emotional state, family relationships, genetics knowledge, and perceived utility of the information they receive. Pediatricians will also be enrolled in the study, provided educational training in genomics and resources to help interpret positive results.

Publications

Armstrong B, Christensen KD, Genetti CA, et al. Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. Front Genet. 2022;13:867371. Published 2022 Apr 27. doi:10.3389/fgene.2022.867371.

Pereira S, Smith HS, Frankel LA, et al. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021;175(11):1132-1141. doi:10.1001/jamapediatrics.2021.2829.

Smith HS, Morain SR, Robinson JO, Canfield I, Malek J, Rubanovich CK, Bloss CS, Ackerman SL, Biesecker B, Brothers KB, Goytia CN, Horowitz CR, Knight SJ, Koenig B, Kraft SA, Outram S, Rini C, Shipman KJ, Waltz M, Wilfond B, McGuire AL. Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development. Patient. 2021 Oct 18. doi: 10.1007/s40271-021-00558-4. Epub ahead of print. PMID: 34658003.

Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, McGuire AL, Wilfond BS, Malek J. Conceptualization of utility in translational clinical genomics research. Am J Hum Genet. 2021 Nov 4;108(11):2027-2036. doi: 10.1016/j.ajhg.2021.08.013. Epub 2021 Oct 22. PMID: 34687653.

Supplemental Project

Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Testing and Validation

A major goal of the CSER consortium is to generate evidence regarding the utility of genomic sequencing (GS). Specifically, the aim is to understand what clinical utility (e.g., impact on diagnosis, treatment, and management) and other dimensions of utility beyond those captured in medical records (e.g., psychological and pragmatic utility) clinicians, patients, families and society experience with GS information. We are developing a survey instrument to assess patients' and families' perceived utility using a rigorous methodological approach in order to generate comprehensive evidence of the broad dimensions of utility of GS that will be made broadly available.

To date we have:

Conducted an extensive literature review to identify the many dimensions of utility (as well as dis-utilities). This led to a subsequent literature review to understand the lack of conceptual clarity about the different theories and definitions of utility and related concepts are used in Philosophy, Microeconomics, Health Evaluation, and Clinical Decision-Making
Conducted interviews across all CSER sites (n=7) for a total of n=60 interviews with patients and parents of patients to assess their perceptions of utility and disutility of GS
Developed a conceptual model of patient-perceived utility of clinical GS that can be used to guide future approaches to evaluate GS
Developed an item pool of over 80 items that we cognitively tested with n=37 CSER participants across 6 CSER sites

Our next steps to develop this quantitative measure of patient-perceived utility of clinical GS include:

Pilot test the item pool with CSER participants, n=50 in each adult and parents of pediatric patient populations.
Refine the item pool based on the pilot testing and administer the revised items to test the psychometric properties of the draft instrument. We will administer n=250 surveys to adult patients and n=250 surveys to parents of pediatric patients.
Finalize the instrument by administering n=250 surveys to adult patients and n=250 surveys to parents of pediatric patients. This step will repeat the previous step and add in a confirmatory steps as well as collect data on related factors.

Supported by: U01HG006485-08S1, National Human Genome Research Institute, NIH

Previous supplement title: Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Development and Validation, U01HG006485-S1

Origin Project: Implementation of Whole Genome Sequencing as Screening in a Diverse Cohort of Healthy Infants

Project Description

The great advances made in genomic medicine that impact diagnoses and care of newborn babies in large academic centers in Texas are generally not available at most level III and level IV NICUs across the state. Major populations in predominantly Hispanic regions such as El Paso and the Rio Grande Valley lack local access to medical genetic expertise, capacity for genomic testing, and frontline practitioners with the knowledge to leverage personal genomic data to improve care. Residents in these remote areas must travel over 300 miles to reach the nearest in-state geneticist. Only twenty years ago, less than three percent of genetic conditions in newborns could be molecularly diagnosed. Today, with routine genomic tests at academic medical centers, over one third of these cases are diagnosed. Unfortunately, many babies born outside of these privileged communities lack access to genetic evaluation and testing, remain undiagnosed, and are unable to benefit from early personalized medical treatment. Here, we propose to dramatically improve the diagnosis of the sickest newborns in hospitals across underserved regions of Texas using a new generation of clinical assays (whole genome and RNA sequencing), leveraging a lower cost sequencing technology and Consultagene, our established remote consultation service and platform. This combined approach (MAGNET) will improve access to care, reduce health disparities, increase the scale and quality of the genomic data generated at reduced cost for the ethnic minority newborns, and advance personalized care. Moreover, we propose to make these diagnostic strategies available through a telehealth-based approach expanding access to medical genetics expertise while improving patient and provider engagement and education, at both academic and community neonatal intensive care units across Texas. This strategy will greatly democratize genome technology, enhancing access in geographically remote, poor, underserved, and minority communities, and reaching a much larger proportion of hospitalized newborns. As such, our work will serve as a model for providing genetic diagnoses in an equitable fashion amid diverse communities in NICUs across the United States.

Funded by National Human Genome Research Institute 1R01HG013428-01A1

Project Description

Newborn screening (NBS) is one of the most successful public health initiatives in medicine and has led to evidence-based interventions that reduce morbidity and mortality from multiple life-threatening pediatric illnesses. However, pediatric cancer risk is not included in NBS! This is notable as at least 10% of children with cancer have an underlining germline cancer predisposition disorder (CPD). Given advances in genetic technology and availability of expert surveillance guidelines for children with CPDs, it is imperative to nperform the research studies needed for implementation of population-based NBS for CPD genes associated with cancer in early childhood, with the goal to improve outcomes through primary and secondary prevention.

We will build on preliminary work, conducted on dried blood spot (DBS) specimens from a large cohort of children with early onset solid tumors and brain tumors, to further develop high-throughput, cost-effective sample pooling methods with artificial-intelligence (AI) assisted technology for detecting pathogenic variants in a panel of 9 relevant CPD-associated genes. We will generate population-based data on the predictive value of cancer-risk NBS and develop appropriate educational materials on cancer-risk NBS.

We will conduct a large, prospective randomized clinical trial in Boston and in Houston, engaging mothers of newborns to consent for cancer-risk NBS. Our study is designed to determine the acceptability in diverse populations of two options, "cancer panel testing" vs. focused testing of high-penetrance genes, RB1 and WT1.

Project outcome: Successful completion of this project will establish cost-effective methods of high-throughput population-based CPD testing, will provide the data for evidence-based refinement of offered CPD genes to be included in NBS, and will promote further development of CPD testing in state labs, after demonstrating safety and acceptability. Identification of children at risk for cancer will lead to improved outcomes and promote further research on innovative modes of surveillance and prevention.

Funder: Alex’s Lemonade Stand Foundation

PI: Sharon Plon, MD, PhD

Co I - Stacey Pereira

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Completed Projects

Project Description

Enabling Personalized Medicine through Exome Sequencing in the U.S. Air Force (the MilSeq Project) is a pilot study examining the process of incorporating genome sequencing (GS) into the United States Air Force (USAF) military health system. Active-duty service members of the USAF (Airmen) are enrolled into the study to undergo GS. Results are returned directly to Airmen by military healthcare providers who are also study participants, and are placed in their electronic health records by the study genetic counselor. Healthcare providers participate in an education session about genomic medicine and are supported by the study genetic counselor.

Through pre- and post-disclosure surveys, we ask Airmen about their motivations and barriers to undergoing GS, the impact of receiving their sequencing results, and their thoughts on integrating this type of information into the USAF military health system. Healthcare providers complete surveys about the genomic education session, their genetic knowledge and feelings of preparedness to communicate this information, and their perceived utility of the information. We are also assessing how the information is used to inform the management of the Airmen’s health.

We are interested in gaining knowledge about the barriers to and medical, behavioral, and economic implications of implementing genomic sequencing information into clinical care in the military health system through the perspectives of USAF Airmen and healthcare providers.

Supported by: FA8650-17-2-6704, U.S. Department of Defense

Disclaimer

This material is based on research sponsored by Air Force Medical Support Agency, Research and Acquisition Directorate AFMSA/SG5 under cooperative agreement number FA8650-17-2-6704. The U.S. Government is authorized to reproduce and distribute reprints for Governmental purposes notwithstanding any copyright notation thereon.

The views and conclusions contained herein are those of the authors and should not be interpreted as necessarily representing the official policies or endorsements, either expressed or implied, of Air Force Medical Support Agency, Research and Acquisition Directorate AFMSA/SG5 or the U.S. Government.

The voluntary, fully informed consent of the subjects used in this research was obtained as required by 32 CFR 219 and AFI 40-402, Protection of Human Subjects in Biomedical and Behavioral Research.

Publications

De Castro M, Biesecker L, Turner C, Brenner R, Witkop C, Mehlman M, Bradburne, Green RC. Genomic Medicine in the Military. Genomic Medicine. 2016: 1:15008.

Presentations

Hsu RL, Pereira S, Robinson JO, Islam R, Majumder M, Parasidis E, Mehlman MJ, Christensen K, Maxwell MD, Blout C, Lebo M, Killian JK, De Castro M, Green RC, McGuire AL. US Air Force Airmen's Perceptions after Receiving Genome Sequencing: Preliminary Results from the MilSeq Project. American Society for Bioethics and Humanities Annual Meeting. Pittsburgh, PA, US. October 24-27, 2019. Accepted as oral presentation.

Blout CL, Sirotich E, Zoltick E, Christensen K, Robinson JO, Pereira S, Petersen DK, Maxwell MD, Gardner C, De Castro M, Lebo M, McGuire AL, Brenner R, Green, RC. Healthy Genomic Sequencing: What Airmen Want to Know? Findings from the MilSeq Project. National Society of Genetic Counselors Annual Meeting. Atlanta, GA, US. November 14-17, 2019. Poster presentation.

Pereira S, Robinson JO, Hsu, RL, Petersen DK, Majumder MA, Parasidis E, Mehlman MJ, Christensen KD, Maxwell MD, Blout CL, Lebo M, Brenner R, Gardner C, De Castro M, Green RC, McGuire AL. Airmen's Attitudes Toward Genomic Sequencing In The US Air Force: Results From The Milseq Project. American Society for Bioethics and Humanities Annual Meeting. Anaheim, CA, US. October 18-21, 2018. Oral presentation.

Hsu RL, Pereira S, Robinson JO, Petersen JK, Majumder M, Parasidis E, Mehlman M, Christensen K, Maxwell MD, Blout C, Lebo M, Brenner R, Gardner C, De Castro M, Green RC, McGuire AL. Airmen's Attitudes toward Genomic Sequencing in the US Air Force: Results from The MilSeq Project. American Society for Human Genetics Annual Meeting. San Diego, CA, US. October 16-20, 2019. Poster presentation.

Maxwell, MD. Robinson JO, Gardner CL, De Castro M, Lebo M, Blout CL, Vassy JL, Christensen KD, Krier JB, Pereira S, McGuire AL, Mehlman MJ, Parasidis E, Brenner R, Green RC. Pharmacogenomics in the US Air Force: Development of a Tailored Panel for the MilSeq Project. American College of Medical Genetics and Genomics. Charlotte, NC. April 2018.

Press Release

US Air Force Studying Impact of Exome Sequencing in Routine Care, Genomeweb Clinical Sequencing. October 2017.

Project Description

The BabySeq project seeks to safely test a new approach to newborn screening using whole genome sequencing. Healthy and sick newborns’ parents, and their pediatricians, will be enrolled into this study and randomized to either receive current standard newborn screening methods or undergo whole genome sequencing plus standard newborn screening methods. A genetic counselor will provide the genomic sequencing information and newborn screening results to the families and the families’ doctors.

Through quantitative longitudinal surveys, parents will be asked about the psychosocial impact of receiving genomic sequencing results and whether the information was useful to them. Physicians will be surveyed at multiple time points to assess the perceived utility of the information and whether and how the information is actually used to manage a patient’s health.

The study will focus on the long-term implications for the health of these babies, as well as the potential impact of receiving this genetic information on the parents, the child, and the family.

Supported by: U19HD077671, Eunice Kennedy Shriver National Institute of Child Health & Human Development, National Human Genome Research Institute, NIH

Publications

Green RC, Shah N, Genetti CA, et al. Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project. Am J Hum Genet. 2023;110(7):1034-1045. doi:10.1016/j.ajhg.2023.05.007

Pereira S, Gutierrez AM, Robinson JO, et al. Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project. Genet Med. 2023;25(3):100002. doi:10.1016/j.gim.2022.100002

Armstrong B, Christensen KD, Genetti CA, et al. Parental Attitudes Toward Standard Newborn Screening and Newborn Genomic Sequencing: Findings From the BabySeq Study. Front Genet. 2022;13:867371. Published 2022 Apr 27. doi:10.3389/fgene.2022.867371

Pereira S, Smith HS, Frankel LA, et al. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021;175(11):1132-1141. doi:10.1001/jamapediatrics.2021.2829

Schwartz TS, Christensen KD, Uveges MK, et al. Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns. 2022;31(1):218-229. doi:10.1002/jgc4.1475

Ceyhan-Birsoy, O., Murry, J.B., Machini, K., Lebo, M.S., Timothy, W.Y., Fayer, S., Genetti, C.A., Schwartz, T.S., Agrawal, P.B., Parad, R.B. and Holm, I.A., 2019. Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. The American Journal of Human Genetics, 104(1), pp.76-93.

Pereira S, Robinson JO, Gutierrez AM, Petersen D, Hsu RL, Lee CH, Schwartz TS, Holm IA, Beggs AH, Green RC, McGuire AL, for The BabySeq Project Group. Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project. Pediatrics. 2019; 143(s1): S6-S13. https://doi.org/10.1542/peds.2018-1099C

Holm IA, McGuire AL, Pereira S, Rehm H, Green RC, Beggs AH, for the BabySeq Project Group. Returning a genomic result for an adult-onset condition to the parents of a newborn: Insights from the BabySeq Project. Pediatrics. 2019; 143(s1): S37-S43. https://doi.org/10.1542/peds.2018-1099H

VanNoy, G.E., Genetti, C.A., McGuire, A.L., Green, R.C., Beggs, A.H., Holm, I.A. and Group, T.B.P., 2019. Challenging the Current Recommendations for Carrier Testing in Children. Pediatrics, 143(Suppl 1), p.S27.

Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB. Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project. Genetics in Medicine. 2018; 21(30: 622-630. https://doi.org/10.1038/s41436-018-0105-6

Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH. The BabySeq Project: Implementing Genomic Sequencing in Newborns. BMC Pediatrics. 2018; 18(225). https://doi.org/10.1186/s12887-018-1200-1

Murry, J.B., Machini, K., Ceyhan-Birsoy, O., Kritzer, A., Krier, J.B., Lebo, M.S., Fayer, S., Genetti, C.A., VanNoy, G.E., Timothy, W.Y. and Agrawal, P.B., 2018. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Molecular Case Studies, 4(4), p.a002873.

Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017;139(2): e20162252. https://doi.org/10.1542/peds.2016-2252

Ceyhan-Birsoy, O., Machini, K., Lebo, M.S., Tim, W.Y., Agrawal, P.B., Parad, R.B., Holm, I.A., McGuire, A., Green, R.C., Beggs, A.H. and Rehm, H.L., 2017. A curated gene list for reporting results of newborn genomic sequencing. Genetics in Medicine, 19(7), p.809.

Frankel LA, Pereira S, McGuire AL. Potential Psychosocial Risks of Sequencing Newborns. Pediatrics, 137, 2016: 24-9.

Waisbren, S.E., Bäck, D.K., Liu, C., Kalia, S.S., Ringer, S.A., Holm, I.A. and Green, R.C., 2015. In the Early Postpartum Period, Parents are Interested in Newborn Genomic Testing. Genetics in medicine: official journal of the American College of Medical Genetics, 17(6), p.501.

Select Presentations

Blout CL, Christensen KD, Smith HS, Pereira S, Robinson JO, Genetti CA, Fayer S, Betting WN, Schwartz TS, Holm, IA, Beggs, AH, McGuire, AL, Green, RC. Physician Perceived Utility and Preparedness for Newborn Genomic Sequencing: Findings from the BabySeq Project. American College of Medical Genetics Annual Meeting. April 2019, Seattle, WA. Oral presentation.

Christensen KD, Dukhovny D, Agrawal P, Genetti CA, Holm IA, Mackay Z, McGuire AL, Pereira S, Schwartz TS, Yu T, Beggs AH, Green RC, Parad R. Screening Newborns with Genomic Sequencing Increases Short-Term Downstream Health Care Costs: Preliminary Findings from the BabySeq Project. American College of Medical Genetics Annual Meeting. April 2019, Seattle, WA. Poster presentation.

Pereira S, Petersen D, Robinson JO, Frankel L, Christensen KD, Waisbren SE, Holm IA, Beggs AH, Green RC, McGuire AL. The impact of newborn genomic sequencing on families: Findings from the BabySeq Project. American Society of Human Genetics Annual Meeting. October 2018, San Diego, CA. Oral presentation.

Holm, IA, Genetti, CA, Pereira, S, Green, RC, Beggs, AH, McGuire, AL. BRCA2, ELSI, and the Return of Genomic Results in the BabySeq Project. 4th ELSI Congress, June 2017. Poster presentation.

HA Peoples, AM Gutierrez, S Pereira, JO Robinson, L Frankel, MC Towne, M Helm, CA Genetti, IA Holm, AH Beggs, RC Green, AL McGuire. Benefits, Risks, and Perceived Utility of Newborn Genomic Sequencing: Comparing Clinicians' and Physicians' Baseline Attitudes in the BabySeq Project. American Society of Human Genetics Annual Meeting. Vancouver, Canada. October 2016. Poster presentation.

Pereira S, Frankel L, Robinson JO, Weipert CM, Towne MC, Gutierrez A, Lee K, Holm IA, Dukhovny D, Beggs AH, Green RC, McGuire AL. Genomic Sequencing of Newborns: Exploring Psychosocial Risks to Families. American Society of Human Genetics Annual Meeting. Baltimore, MD. October 2015. Poster presentation.

Project Description

The PeopleSeq Consortium, funded by the NIH, is conducting a longitudinal study of healthy adults by surveying those who plan to, or have already received, their own genomic sequence information. Genomic sequencing, including genome sequencing (GS) and exome sequencing (ES), are available to and being utilized by physicians and their patients in both research and clinical settings. The use of genomic sequencing in healthy populations to screen for disease variants is conceptually different from anything practiced today in medical genetics. Instead of using genomic technology in the hopes of identifying a cause for a specific condition, genomic sequencing in healthy individuals would follow a model of “predispositional" genomic testing. Genomic sequencing of healthy individuals could grow to resemble current population-based preventative screening measures, such as newborn screening (the "heel price" test).

PeopleSeq participants have received their GS information through various commercial and research avenues, many of which follow different return of results models. Our longitudinal surveys focus on the medical, behavioral, and economic impact of performing genomic sequencing in healthy adults, and were built by drawing upon our prior experience in designing and implementing rigorous studies of the outcomes of genetic testing and results disclosure, including the Impact of Personal Genomics (PGen) Study and the MedSeq Project.

We are also conducting interviews with participants who received unanticipated disease risk results to explore the impact of this information, and participant's decision making processes, informational needs, and sharing preferences after receiving such information.

Despite the promise of genomic sequencing for personalized medicine, there remain significant challenges and concerns that must be addressed. Some consider the utilization of genomic sequencing in healthy individuals to be controversial; the short and long-term outcomes of providing genomic sequencing information to healthy adults are not yet known.

The PeopleSeq Consortium enables us to collect valuable empirical data on the medical, behavioral, and economic impact of performing genomic sequencing in healthy adults.

Supported by: R01-HG009922, R01HG011268, National Human Genome Research Institute, NIH

Publications

Zoltick, E.S., Linderman, M.D., McGinniss, M.A., Ramos, E., Ball, M.P., Church, G.M., Leonard, D.G., Pereira, S., McGuire, A.L., Caskey, C.T. and Sanderson, S.C., 2019. Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium. Genome medicine, 11(1), p.10.

Linderman, M., Nielsen, D. and Green, R., 2016. Personal genome sequencing in ostensibly healthy individuals and the PeopleSeq Consortium. Journal of personalized medicine, 6(2), p.14.

Presentations

Zoltick, ES, Linderman, MD, Nielsen, DE, Betting, WN, McGinniss, MA, Ramos, E, Ball, MP, Leonard, DGB, Pereira, S, Sanderson, SS, Crawford, SD, Green, RC, the PeopleSeq Consortium. Temporal Differences in Concerns, Motivations, and Attitudes regarding Predispositional Genome Sequencing among Healthy Adults: Findings from the PeopleSeq Consortium. Poster presented at the American Society of Human Genetics Annual Meeting, October 2018, San Diego, CA.

Sutti, S, Zotick, E, Linderman, M, Nielsen, D, McGinnis, M, Ramos, E, Ball, M, Leonard, D, Pereira, S, Sanderson, S, Crawford, S, Green, RC. Participant Perspectives in Discussing Predispositional Genome Sequencing Results with Healthcare Providers: Findings from the PeopleSeq Consortium. Poster presented at the American College of Medical Genetics and Genomics Annual Meeting, April 2018, Charlotte, NC.

Zoltick, E, Linderman, M, Nielsen, D, McGinnis M, Ramos, E, Ball, M, Leonard, D, Pereira, S, Sanderson, S, Crawford, S, Green, RC. Motivations, Outcomes, and Attitudes Following Predispositional Genome Sequencing among Healthcare Professionals and Non-Healthcare Professionals: Findings from the PeopleSeq Consortium. Poster presented at the American College of Medical Genetics and Genomics Annual Meeting, April 2018, Charlotte, NC.

Green RC, Hambuch T, Ball M, Church G, Linderman M, Pearson N, Roberts JS, Sanderson S, Weipert C, Helm M, Schadt E. Predispositional Genome Sequencing in Healthy Adults: Preliminary Findings from the PeopleSeq Study. American College of Medical Genetics Annual Meeting. Salt Lake City, UT, US. March 24-28, 2015. Poster presentation.

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Stacey Pereira Lab

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