Medical Genetics & Genomics Residency Program
Overview
We offer the ACGME-accredited categorical Medical Genetics and Genomics (MGG) Residency Program and the combined Pediatric/Medical Genetics and Genomics (Peds/MGG) Residency program at the University of Colorado. These programs offer trainees the opportunity to expand their knowledge as physicians in the field of pediatric medical genetics. Providing clinical services at The Children’s Hospital Colorado, the section follows a large number of patients from Colorado, Wyoming, Montana, and parts of Nebraska, Kansas, and New Mexico. This large patient catchment area has allowed us to care for kids and adults with a broad variety of genetic disorders. Staffed by clinicians and a team of outstanding genetic counselors, nurses, and dieticians, our trainees have the opportunity to work with a diverse array of specialist in the field.
Trainees have access to the broad course offerings of the School of Medicine and a curriculum in the scientific underpinnings of clinical genetics is offered through the M.S. in Human Genetics and Genetic Counseling program. The MGG program is 2 years in length; the Peds/MGG program is 4 years in length, both have a complement of 2 per year and prepare graduates to sit for the Clinical Genetics Board Examination administered by the American Board of Medical Genetics (ABMG).
The programs seek to attract physicians from diverse backgrounds and experience interested in pursuing careers in medical genetics. Eligible MGG candidates must have an MD or DO and have completed at least 1 year of residency training in another ACGME-accredited primary specialty in the United States or equivalent training in Canada; Peds/MGG candidates must have completed an MD or DO from a US or Canadian school or have current ECFMG certification. Trainees must be eligible to work in the United States and obtain a Colorado medical license before the commencement of training.
Clinical medical geneticists are able to:
- Diagnose and manage genetic disorders
- Provide patient and family counseling
- Use their knowledge of heterogeneity, variability, and natural history of genetic disorders in patient care decision-making
- Elicit and interpret individual and family medical histories
- Interpret clinical genetic and specialized laboratory testing information
- Explain the causes and natural history of genetic disorders and genetic risk assessment
- Interact with other healthcare professionals in the provision of services for patients with genetically influenced disorders
Scope of Clinical Experience
The overall goal of the program is to train highly competent, clinical medical geneticists who are able to provide state of the art level of diagnostic, management, and counseling services for wide variety of genetic disorders. The resident’s assignments during the 2 year genetic residency are based on each activity’s educational value toward achieving the program objectives and are not dictated by the service needs.
This 2 year program is divided into twelve 1 month block rotations per year.
Residents will spend 12 months in the genetics and metabolics clinics at Children’s Hospital Colorado. During these months, residents will have primary responsibility for preparing for clinic visits, conducting visits and then ensuring that appropriate follow up is provided. In addition to general metabolic and general genetics clinics, residents will attend the following specialty clinics: lysosomal, mitochondrial, PKU, galactosemia, skeletal dysplasia, neurogenetics, autism, Prader Willi, Angelman, 22q, neurofibromatosis, ocular genetics, vascular malformations.
Residents will spend 6 months in the University Hospital genetics clinics. This includes the Adult Genetics clinic, prenatal genetics as well as adult hereditary cancer syndromes clinic. During those months, residents will also participate in prenatal genetics consultations at Children’s Hospital Colorado as well as participating in the pediatric hereditary cancer syndromes clinic.
Residents will spend 3 months conducting a research project of their choosing under the mentorship of one of the faculty members. Those months may be arranged as is most conducive to the particular project (either consecutively or dispersed).
Residents will spend 6 weeks of time in the 3 affiliated laboratories (biochemical, molecular genetics, cytogenetics). They will also spend 6 weeks attending elective clinics such as cardiac genetics, neuromuscular clinic, Down syndrome clinic, fragile X clinic, hearing loss clinic, and craniofacial clinic.
Residents will spend 1 week of each month on call for the inpatient genetics and metabolics service at Children’s Hospital Colorado. Responsibilities during the monthly week on call include:
- first call for inpatient consultations
- first call for outpatient consultations from internal and community physicians
- conduct urgent add-on clinic visits
- participate in newborn screen results follow up
- take urgent calls from families about management of illness
Lab Experience
The residents have a 6 week laboratory rotation which includes 2 weeks each in the cytogenetics laboratory, molecular genetics laboratory, and biochemical genetics laboratory. The goal of these rotations is for the residents to:
- learn what techniques are used for the diagnostic tests and what specimen is appropriate for each test
- learn the interpretation of the results in regard to its clinical significance and to learn what other tests are indicated to clarify any ambiguity or further define an abnormality
- become aware of the regulations and guidelines under which a laboratory is required to operate
- become proficient at reporting laboratory results back to the ordering care providers
- become familiar with laboratory workflow and administration
Cytogenetics Lab:
This lab is a full-service state of the art clinical cytogenetics, molecular genetics, education and research laboratory. With a rich history as a leader, early milestones included automated karyotyping (1986), clinical fluorescent in situ hybridization (FISH, 1991), and comparative genomic hybridization (CGH, 1992) in addition to standard cytogenetic testing. Clinical sample volume approaches 12,000 samples/year of postnatal, prenatal, and cancer including paraffin embedded samples. Rapidly expanding chromosomal microarray (CMA) genomic testing has been offered clinically since 2006, with a high density CMA/SNP array since 2014.
Molecular Lab:
This lab has become a worldwide referral center for molecular testing for inborn errors of metabolism, pigmentation disorders, and diseases of the eye in addition to offering testing for common disorders such as the Fragile X syndrome, cystic fibrosis and thrombophilia. The lab currently process approximately 3500 samples per year and offers testing for over 150 genes. It serves as a core center for isolation of DNA from blood and other tissues for many projects on the Anschutz Medical Campus, including the CTSI. Advanced molecular testing, such as duplication/deletion chips and exome sequencing, are in development.
Biochemical Genetics Lab:
This lab focuses on procedures relevant to the diagnosis and management of amino and organic acidemias and disorders of fatty acid oxidation. Analyses presently offered include amino acid screening and quantitation; organic acid screening; quantitation of succinylacetone and glutaric, 3-hydroxyglutaric, orotic, methylmalonic, and N-acetyl aspartic acids by stable isotope dilution gc-ms; screening and qualitative analysis of mucopolysaccharides; profiling of acylcarnitines by tandem mass spectrometry; and enzyme assays for very long-chain acyl-CoA dehydrogenase, glutaryl-CoA dehydrogenase, electron transfer flavoprotein (ETF), and ETF-ubiquinone oxidoreductase. The laboratory has been CAP accredited for over twenty years.
Didactic Lectures
We offer several didactic courses to trainees, including:
- MBG Core Clinical Seminar Series (launched in 2020, this online conference spans several months & includes experts in the field across the US)
- Molecular Genetics and Cytogenetics
- Survey in Human Genetics (offered through the Human Medical Genetics Program)
- Biochemical Genetics
- Risk Assessment
- Cancer Genetics
The classes are coordinated through the graduate genetic counseling program except where noted above. Further, the Department of Pediatrics offers an evening fellows lecture series to which the medical genetics residents are invited and encouraged to attend.
Conferences
Residents participate in the following education conferences:
- Basic science research presentations
- Metabolic patient care meeting
- Laboratory Rounds
- Pediatric Grand Rounds
- Genetics Journal Club
- Genetics Grand Rounds
- Variant interpretation conference
- Clinical research update meetings
- Morbidity and Mortality Conference
- Radiology Rounds
Other Opportunities:
- QI/QC Workshop and training
- Resilience training
- Resident and fellow retreats/workshops through GME
- Metabolic University
- Mountain States Regional Genetics Network Meeting
- North American Metabolic Academy (NAMA)
Research and Scholarly Activities
- research methodology and clinical research study
- informed consent and IRB approval processes
- evaluation of the results, including the utilization of statistical methods
- experience writing and submission of an abstract and/or a manuscript.
Other Scholarly Activities
In addition to the formal research rotation, the residents are encouraged to participate in scholarly activities throughout the 2 years of residency. Attendance and submission of abstracts or presentations to local, regional, or national meetings is encouraged.
MGG Residents:
Daniel Pique, MD, PhD
Medical School: Albert Einstein College of Medicine
Pediatrics Residency Intern Year: University of California, San Francisco
Research Interests: Bioinformatics, health disparities in genetics and genomics
Medical School: Airlangga University, Surabaya, Indonesia
OB/GYN Residency: Detroit Medical Center/Wayne State University
Maternal-Fetal Medicine Fellowship: MetroHealth Medical Center & University Hospital Cleveland
Research Interests: Congenital anomalies and genetic and genomic disorders
Peds/MGG Residents:
Medical School: University of North Carolina, Chapel Hill School of Medicine
Masters of Public Health: George Washington University
Research Interests: Epigenetics of childhood trauma, newborn screening
Jacyln Souder, MD, PhD
Medical School: University of Alabama School of Medicine
Research Interests: Gene-environment interactions and genetic disorders in the neonatal period
Medical School: George Washington University School of Medicine
All applications are received through ERAS.
MGG: see the current ERAS Fellowship July Cycle for application dates
Pediatrics/MGG: see the current ERAS residency timeline for application dates
For questions about our program or the application process, please contact the following:
Austin Larson, MD
Program Director
Austin.Larson@childrenscolorado.org
Holly Ables, MA
Senior Academic Professional
holly.ables@cuanschutz.edu
| Diversity / Equity / Inclusion |
We are committed to creating a diverse environment for students, residents, fellows, and faculty. We believe that an environment of inclusiveness and respect promotes excellence and that a setting where diversity is valued leads to the training of physicians who are prepared to practice culturally effective medicine and meet the needs of the various populations we serve. Visit our Diversity, Equity, and Inclusion in PEM page for more. |
| Well-Being / Resilience |
By embracing wellness and improving personal resiliency, physicians can reconnect with the meaning of their work and fend off stress. Reducing or eliminating burnout also has practical implications for the entire department such as improving patient safety, student advancement, and the overall campus environment. |
