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NHGRI medical genetics training programs provide an array of education opportunities

Eric Green, M.D., Ph.D. March 04, 2021

Earlier this week, NIH Director Francis Collins, M.D., Ph.D, announced expansive new efforts for all of NIH to support equity, diversity, and inclusion in science, with the ultimate goal to end structural racism in biomedical research, through the launch of an initiative called UNITE. I encourage you to respond to a Request for Information (RFI) inviting feedback on the approaches NIH can take to advance this goal.

As we navigate our way through winter and the continuing pandemic, I would — as I have in previous issues of The Genomics Landscape — like to offer some “remote learning” opportunities provided by NHGRI.

Later today at 2 p.m. ET, Vence Bonham (Senior Advisor for Genomics and Health Disparities) and I will answer questions about enhancing the diversity of the genomics workforce on Twitter as part of #AskDrGenome. If you are an educator, you may be interested in applying to participate in the 2021 Short Course in Genomicsapplications are due March 8. The second seminar in the new Bold Predictions for Human Genomics by 2030 seminar series will occur on March 8 and feature Nancy Cox, Ph.D., and Neville Sanjana, Ph.D. The seminar focuses on Bold Prediction #2 from the 2020 NHGRI Strategic Vision — The biological function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will be the rule rather than the exception. Lastly, on March 26, Pilar Ossorio, Ph.D., J.D., will present “Genomics and health disparities: Why include people in research if they lack access to decent health care?” as part of the Genomics and Health Disparities Lecture Series.

All the best,

Eric Green signature

NHGRI medical genetics training programs provide an array of education opportunities

Nurse Learning with Stethoscope


Postgraduate training in medical genetics has been a cornerstone of clinical training at the National Institutes of Health (NIH) for many years. As a worldwide leader in developing cutting-edge genomics tools and technologies, the National Human Genome Research Institute (NHGRI) provides opportunities for first-hand training experiences from genomics leaders and innovators through a suite of seven training programs spanning various aspects of medical genetics and genomics. These programs offer trainees a variety of mentored interactions with researchers and physicians and provide access to vast resources at the NIH, other local and renowned medical institutions, and an impressive array of clinical and academic diagnostic laboratories around the nation’s capital.

Recently, NHGRI appointed Oleg Shchelochkov, M.D., as the new Director of Residency and Fellowship Programs to oversee these training programs. Dr. Shchelochkov will work closely with other NIH training program leaders, in particular Melissa Merideth, M.D., M.P.H. (Clinical and Medical Biochemical Genetics) and Robert Hufnagel. M.D., Ph.D. (Laboratory Genetics and Genomics). Dr. Shchelochkov joins the training program team after most recently working as a staff clinician in Chuck Venditti’s Organic Acid Research Section within the NHGRI Intramural Research Program (IRP), focusing on inborn errors of metabolism.

Training future generations of clinical geneticists and genomic scientists is one of the central values in the 2020 NHGRI Strategic Vision. The clinical training programs in the NHGRI IRP include a Medical Genetics Residency, Laboratory Genetics and Genomics Fellowship, Medical Biochemical Genetics Residency, and Clinical Biochemical Genetics Fellowship. NHGRI also provides the medical genetics training for several combined programs, including a Combined Residency in Pediatrics and Medical Genetics as well as Combined Fellowships in Maternal Fetal Medicine and Medical Genetics and Reproductive Endocrinology and Medical Genetics. These programs complement other training opportunities in which NHGRI is centrally involved, such as the Genetic Counseling Training Program that is collaboratively led by Johns Hopkins University and NIH. Mentorship is a key component of all of these programs. Participants have access to mentors at NHGRI, the broader NIH, and other well-respected institutions in the greater DC-Baltimore metropolitan area.

The three-year Medical Genetics Residency Program trains physicians to diagnose, manage, and counsel patients with genetic disorders. The program exposes its trainees to genetic conditions that range from common to ultra-rare, providing broad experiences in clinical and molecular genetics, metabolic diseases, and bioinformatic applications. The program includes clinical and laboratory training (accompanied work in a research laboratory), participation in natural history studies, and work on clinical trials or bioinformatics projects. Clinical training includes the unique and diverse patient populations at the NIH (including exposure to innovative clinical trials for treatments of rare disease) as well as rotations at outstanding local institutions.

The Laboratory Genetics and Genomics Fellowship Training Program is a two-year fellowship program that trains individuals with M.D., D.O., and Ph.D. degrees to become laboratory directors with expertise to oversee and interpret cytogenetic and molecular genetic tests important in the diagnosis and management of human genetic disorders. To gain the requisite laboratory experience, fellows rotate through a variety of CLIA-certified cytogenetic and molecular genetics diagnostic laboratories at NIH and in the DC-Baltimore metropolitan area. Fellows also gain clinical exposure by seeing patients with genetic disorders across the lifespan in various NIH centers and in hospitals and outpatient clinics.

The Medical Biochemical Genetics Residency Program is a one-year residency program that trains highly motivated physicians to diagnose, manage, and counsel patients with inborn errors of metabolism. Like the Medical Genetics Residency Program, this program is unparalleled in several respects. It exposes residents to rare metabolic disorders that might not be seen in a more typical biochemical genetics program and it is one of the few programs that emphasizes clinical research. While NHGRI sponsors this program, residents also rotate at other participating institutions in the DC-Baltimore metropolitan area.

The two-year Clinical Biochemical Genetics Fellowship Program is designed to train individuals with M.D., D.O., and Ph.D. degrees in the modern laboratory diagnostic methods of enzymatic analysis, high-pressure liquid chromatography, and gas chromatography mass spectrometry to enable diagnosis of a wide range of inborn metabolic disorders. Fellows in this laboratory program complete rotations at the NIH and at other participating institutions.

The Combined Pediatrics and Medical Genetics Residency Program, offered in conjunction with Children's National Hospital in Washington, DC, is a four-to-five-year program that trains physicians in pediatric medicine as well as in the diagnosis, management, and counseling of patients with genetic disorders. Participants gain broad experience in pediatrics, clinical and molecular genetics, metabolic diseases, and cytogenetics. Trainees spend approximately 50% of their time in a pediatrics residency program at Children’s National Hospital and the remaining 50% in a clinical genetics residency. Clinical training highlights the role of genetics in general medicine, pediatrics, oncology, ophthalmology, cardiology, and perinatal medicine.

The Maternal Fetal Medicine and Medical Genetics Fellowship offers combined subspecialty training in maternal-fetal medicine and medical genetics in collaboration with the MedStar Washington Hospital Center and is intended for those who have already completed a residency in obstetrics and gynecology. The four-year combined program provides a unique training opportunity for understanding the genetic etiologies seen in prenatally diagnosed anomalies and the impact of genetic and metabolic disease on healthy and high-risk pregnancies. The fellowship is structured to allow two years of focus on maternal-fetal medicine and two years of focus on medical genetics.

The Reproductive Endocrinology and Medical Genetics Fellowship is a four-to-five-year training program offered in conjunction with the NICHD/Federal Fellowship in Reproductive Endocrinology. This program is designed to provide training in the diagnosis, treatment, and counseling for genetic conditions that influence fertility. Fellows are trained in the latest treatments for couples with infertility, including artificial reproductive technologies and pre-implantation genetic testing. The training program is open to those who have already completed a residency in obstetrics and gynecology.

Explore the above wide array of NHGRI clinical training opportunities and be a part of pushing these exciting clinical areas forward, all through first-hand training from genomics leaders and innovators.

NHGRI to recruit a new Scientific Director

Dan Kastner

After having served as NHGRI Scientific Director since October 2010, Dan Kastner M.D., Ph.D., has announced that he will step down from this leadership position to focus on his research program and clinical activities. This transition will occur once a new Scientific Director has been selected and assumes the position. As a result, NHGRI is launching a major search to identify the next NHGRI Scientific Director. This important leadership position has responsibility for overseeing the entire NHGRI Intramural Research Program. Applications will be accepted starting in mid-March.

NHGRI establishes Genomic Science and Health Equity Fellowship Program

Women writing


In January, NHGRI’s Intramural Research Program established the Genomic Science and Health Equity Fellowship Program in partnership with the Food and Drug Administration’s (FDA’s) Office of Minority Health and Health Equity. This program will prepare fellows to use genetic, genomic, and pharmacogenomic approaches to advance minority health and health equity. Fellows will be trained in the research methodology and medical product development processes that facilitate the delivery of drugs, biologics, and devices from the bench to the bedside. The fellowship is currently open for applications, and the selected fellow will start in summer or fall of 2021. The first fellow will be co-mentored by researchers from NHGRI, FDA, and the NIH Clinical Center to pursue genomics research related to blood transfusion support for sickle cell disease. Eligibility requirements and application guidelines for this opportunity are available on the program webpage on genome.gov.

NHGRI workshop to explore intersection of artificial intelligence and genomics research

Robot with ACTG in the background


On April 13-14, the NHGRI Genomic Data Science Working Group of the National Advisory Council for Human Genome Research will host a virtual Machine Learning in Genomics: Tools, Resources, Clinical Applications, and Ethics Workshop. The goals of the workshop are to define key areas in genomics for machine learning and define NHGRI’s unique role in machine learning research for both genomic sciences and genomic medicine. This event is open to anyone interested in the cutting-edge intersection of artificial intelligence and genomics research. The workshop will kick off with two keynote presentations and then dive into panels exploring topics that include algorithm development; ethical, legal, and social implications; data and resource needs; and clinical applications for machine learning in genomics. Workshop registration is required and available on the workshop webpage on genome.gov.

NHGRI panel to explore effects of genetic paternalism in biomedical research and clinical practice

Doctors in discussion


A constant tension that spans all areas of biomedical research and clinical practice is the question of how experts can act in the best interest of patients and research participants without assuming they know what is best for those individuals. On March 15, NHGRI’s Policy and Program Analysis Branch will host a panel discussion exploring this tension at multiple levels in genomics research and medicine, from patient-provider interactions to research engagement with marginalized communities. The Genetic Paternalism: Striking the Balance Between Expert Perspective and Patient Autonomy panel discussion will feature Candace Henley (Founder of the Blue Hat Foundation), Leila Jamal Sc.M., Ph.D. (Associate Director for Cancer Genomics in the Johns Hopkins/NIH Genetic Counseling Master's Degree Program), and Ashley Buscetta, F.N.P.-B.C., C.W.O.C.N. (Family Nurse Practitioner in the NHGRI Health Disparities and Medical Genetics Branch). The panel will provide researchers and providers with strategies for thinking about their responsibilities with respect to their patients and ideas for engaging patients and participants in decision-making about their own health and data – both systematically and at an individual level.

Strategic Vision


Champion a diverse genomics workforce the promise of genomics cannot be fully achieved without attracting, supporting, and retaining a diverse workforce, which includes individuals from groups that are currently underrepresented in the genomics enterprise.


NHGRI has made a long-term commitment to enhance the diversity of the genomics workforce. This will require strategic efforts at every stage of the pipeline, beginning with 1) exposure to science and genomics in primary and secondary education; 2) developing and supporting successful genomic training opportunities for undergraduate and graduate students; and 3) providing support for early stage genomic scientists to transition to independent careers in the research and clinical workforce. Realizing a diverse workforce will require each of us to be intentionally engaged in the development of an inclusive genomics community.

Vence L. Bonham, J.D. (Senior Advisor to the NHGRI for Genomics and Health Disparities and Associate Investigator, Social and Behavioral Research Branch)






2020 NHGRI Strategic Vision

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Upcoming Videocasts

Bold predictions for human genomics by 2030: Session 2 with Nancy Cox and Neville Sanjana - March 8

Genetic paternalism: Striking the balance between expert perspective and patient autonomy - March 15

Genomics and Health Disparities Lecture Series: Pilar Ossorio “Genomics and health disparities: Why include people in research is they lack access to decent health care?” - March 26

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Seminar Series: Bold Predictions for Human Genomics by 2030

Session 2: March 8, 2021, 3 p.m. to 4:30 p.m.

Prediction: The biological function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will be the rule rather than the exception.


  • Nancy Cox, Ph.D., Vanderbilt University
  • Neville Sanjana, Ph.D., New York Genome Center


  • Carolyn Hutter, Ph.D., NHGRI
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About The Genomics Landscape

A monthly update from the NHGRI Director on activities and accomplishments from the institute and the field of genomics.

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Last updated: February 12, 2021