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The CLINSEQ® Study seeks to learn about the role that your genes play in your health. We do this by getting a DNA sample from you, sequencing most or all of your genes, and comparing that to what we know about your personal and family health histories. We look at genes related to a variety of conditions, including heart disease, breast cancer, and hearing loss.

Study Overview

Our goal is to enroll 1500 participants in the project. So far, we have over 900 participants, and we still need more volunteers for the study. Each member of the study has a clinical visit and tests to look at heart health. Study members also give us information on their family and medical histories. Finally, blood samples are taken for routine tests that look for health problems such as diabetes and high cholesterol, as well as for genetic testing. Participants get the results of all their testing (except the genetic tests) about one month after their visit. Study members receive the results of their genetic testing when they are available.

There are many goals of the study, including:
  1. To explain how genetic changes relate to health.
  2. To learn the best ways to share the results of genetic tests with people.
  3. To create new ways to analyze and store genetic data.

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Eligibility & Enrollment

CLINSEQ® study recruitment will focus on the metropolitan Washington D.C. and Baltimore areas in order to minimize reluctance to participate because of travel limitations.

We are looking for people who:

  • Are between the ages of 45 and 65 years
  • Have NOT smoked any cigarettes in the last year
  • Live in the local area, or are willing to return to the area several times over the coming years at their own expense
  • Have a primary care physician or have access to a community health center
  • Do not have a parent, sibling or child who is already in CLINSEQ®

We want to diversify our study group and are very interested in individuals who:

  • Have a known history of heart disease (such as heart attack, bypass surgery or stent).
  • Are African-American/Black, either with or without a history of heart disease.

If you or someone you know meets these criteria and is interested in joining the study, please call our research assistant at 301-443-6160. They will ask you a few questions to make sure you are eligible to join the study, and can tell you more about the project.

What are the benefits of joining CLINSEQ®?

Possible benefits to you may include:

  • Free clinical testing, such as testing for cholesterol and diabetes.
  • Free CAT scan to detect coronary artery disease.
  • Finding gene changes that are important to your health and/or the health of your relatives.
What are the risks of joining CLINSEQ®?

Possible risks of the study include:

  • Physical risks, such as pain or bruising as a result of the blood draw and radiation exposure during the CAT scan. These risks tend to be very rare or minor.
  • Emotional risks, such as becoming upset or anxious as a result of getting testing results.
  • There may be a risk that genetic information could be misused for discriminatory purposes. However, there are state and federal laws that provide some protection against this. Also, researchers on our project take measures to maintain the confidentiality of your genetic testing results.
What happens if I join CLINSEQ®?

There are five main steps to joining our study.

  • 1. Enrollment & Scheduling: Someone from our study will verify that you are eligible for the study. Then they will help you schedule your initial visit with us. We will send you a letter with information to help you prepare for your visit.
  • 2. Initial CLINSEQ® Visit: You will spend 4 to 5 hours at the National Institutes of Health (NIH) in Bethesda, Md. for your initial visit. The main pieces of this visit are:
    • Blood work: First, you will have about 6 to 7 tablespoons of blood taken. This blood is used for clinical and genetic testing.
    • EKG, Echocardiogram and CT Scan: These are noninvasive tests that look at how your heart is working, including signs of heart disease.
    • Consent: We will review the consent form and answer any questions you have about the study.
    • Family & Medical History: Our genetic counselor and nurse practitioner will review and expand on these histories.
  • 3. Return of Results from Initial Visit: You will receive a letter going over the results of all of your tests (including the echocardiogram, EKG, CT and blood work with the exception of the genetic testing). This letter will contain recommendations for follow-up with your doctor. Depending on the results, we may also call you and ask to speak with your doctor directly.
  • 4. Ongoing Enrollment: Since it may take us years to analyze your genetic tests, most participants will only hear from us every once in awhile in the first years after their initial visit. We will send out newsletters, and we may also invite you to join spinoff studies that relate to CLINSEQ®.
  • 5. Return of Genetic Results: As they become available, you will be contacted and asked whether you want to receive your genetic results. While everyone will have some results to receive, they may pertain to a wide variety of diseases, and they may or may not be medically actionable.

To contact a member of the CLINSEQ® staff, call 301-443-6160 or e-mail us at CLINSEQ@mail.nih.gov

Appointment Forms

In order to prepare for your visit, we will send you a packet of materials to help you prepare for your visit. This packet contains information about how to get to the NIH campus via car, bus or Metro rail, campus security and parking, instructions and schedule for the day of your visit, and forms that you must complete prior to your visit. Below is a complete list of most of the forms you will receive, along with links to electronic copies of the forms if you wish to work on them prior to receiving your packet in the mail.

During your initial appointment, you will spend 4-5 hours at the National Institutes of Health (NIH) in Bethesda, Maryland to complete this visit. The main parts of this visit are:

  • Blood work: First, you will have approximately 6-7 tablespoons of blood taken. This blood is used for clinical and genetic testing.
  • EKG, Echocardiogram and CT Scan: These are noninvasive tests that look at how your heart is working, including signs of heart disease.
  • Consent: Our genetic counselor will review the consent form and answer any questions you have about study participation.
  • Family & Medical History: Our genetic counselor and nurse practitioner will review and expand on these histories.

If you need to cancel or reschedule your visit, please contact our research assistant at 301-443-6160 at least 24 hours prior to your appointment.

News

CLINSEQ® Newsletters
NHGRI News Releases

NIH researchers pilot predictive medicine by studying healthy people's DNA
2015: A new study by National Institutes of Health researchers has turned traditional genomics research on its head.

Trans-NIH Study Explores Medical Role for Genome Sequencing
2007: Patients with Cardiovascular Disease to Participate in Genetic Sequencing Study

CLINSEQ® Publications
  • De Castro M, Johnston J, Biesecker LG. Determining the prevalence of McArdle disease from gene frequency by analysis of next-generation sequencing data. Genet Med, 2015. [In Press]
  • Ferrer RA, Taber JM, Klein WM, Harris PR, Lewis KL, Biesecker LG. The role of current affect, anticipated affect and spontaneous self-affirmation in decisions to receive self-threatening genetic risk information. Cogn Emot, 2014. [In Press]
  • Wassif CA, Cross JL, Iben J, Sanchez-Pulido L, Cougnoux A, Platt FM, et al. High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets. Gene Med, 2015. [In Press]
  • Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, et al. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res, 2015. [In Press]
  • Lewis KL, Han PK, Hooker GW, Klein WM, Biesecker LG, Biesecker BB. Characterizing participants in the ClinSeq genome sequencing cohort as early adopters of a new health technology. PLoS One, 10(7):e0132690. 2015. [PubMed]
  • Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, et al. Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. Am J Hum Genet, 96(6):913-25. 2015. [PubMed]
  • Taber JM, Klein WM, Ferrer RA, Lewis KL, Harris PR, Shepperd JA, et al. Information avoidance tendencies, threat management resources, and interest in genetic sequencing feedback. Ann Behav Med, 49(4):616-21. 2015. [PubMed]
  • Taber JM, Klein WM, Ferrer RA, Lewis KL, Biesecker LG, Biesecker BB. Dispositional optimism and perceived risk interact to predict intentions to learn genome sequencing results. Health Psychol, 34(7):718-28. 2015. [PubMed]
  • Feero WG, Facio FM, Glogowski EA, Hampel HL, Stopfer JE, Eidem H, et al. Preliminary validation of a consumer-oriented colorectal cancer risk assessment tool compatible with the US Surgeon General's My Family Health Portrait. Genet Med, 2014. [ePub Ahead of Print]
  • Sen SK, Boelte KC, Barb JJ, Joehanes R, Zhao X, Cheng Q, et al. Integrative DNA, RNA and protein evidence connects TREML4 to coronary artery calcification. Am J Hum Genet, 95(1):66-76. 2014. [PubMed]
  • Biesecker BB, Klein W, Lewis KL, Fisher TC, Wright MF, Biesecker LG, et al. How do research participants perceive "uncertainty" in genome sequencing? Genet Med, 16(12):977-80. 2014. [PubMed]
  • Sen SK, Barb JJ, Cherukuri PF, Accame DS, Elkahloun AG, Singh LN, et al. Identification of candidate genes involved in coronary artery calcification by transcriptome sequencing of cell lines. BMC Genomics, 15:198. 2014. [PubMed]
  • Wright MF, Lewis KL, Fisher TC, Hooker GW, Emanuel TE, Biesecker LG, et al. Prefernces for result delivery from exome sequencing/genome sequencing. Genet Med, 16(6):442-7. 2014. [PubMed]

Contact Information

For direct contact to the CLINSEQ® Study Research Assistant, call 301-443-6160.

For direct contact to the CLINSEQ® Study Nurse Practitioner, call Stephen Gonsalves at 301-594-6341.

Send mail to the following address:
CLINSEQ® Study
Bldg 10, Room 3C710
Bethesda, MD 20892-1253

Contact

Leslie G. Biesecker, M.D.
Leslie G. Biesecker, M.D.
  • Chief & Senior Investigator
  • Medical Genomics and Metabolic Genetics Branch

Last updated: June 13, 2014