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Medical Genetics Education

Understanding the clinical significance of the genome through education and research

Resources and useful links for health care professionals

Supporting Medical Genetics and Genomics Education

Illumina strives to advance awareness of the importance of genetics and health. We recognize that education and clinical research are key to achieving this goal. We are dedicated to providing medical genetics education, supporting independent medical education, and investing in clinical studies. All these endeavors align with our core values and ethical responsibilities.

Explore our collection of educational resources for:

Medical Genetics and Genomics Education Resources

Illumina is committed to providing health care professionals with accurate, unbiased, and balanced medical genetics information and education. Our education begins with basic genetic concepts and encompasses specific areas of focus including obstetrics, oncology, and rare diseases. This includes support for continuing medical education (CME) activities to help enhance health care providers' knowledge, with the goal of improving patient care.

This information is not a substitute for the exercise of the health care provider’s professional judgment in providing clinical services.

Watch Video
Medical Genetics in Clinical Practice

Accelerate your understanding of medical genetics and learn how genomic information can aid in diagnosis and treatment.

Genomic Medicine Primer

A review of key genetic concepts and principles published in the New England Journal of Medicine.

Genomic Medicine: An Updated Primer

An update on conceptual and technological advances in genetics and genomics published in the New England Journal of Medicine.


Oncology & Pathology Resources

Introduction to NGS for Pathologists

NGS is changing the paradigm in molecular pathology, moving from clinical diagnosis alone to providing evidence supporting treatment recommendations.

Introduction to NGS for Oncologists

In order to translate a patient’s genomic information in a clinically meaningful way, it is essential for oncologists to become acquainted with the capabilities of NGS.

Future of NGS in Oncology

NGS has the potential to change the future of oncology and advance the promise of personalized medicine.


Reproductive Genetics Resources

Counseling Guide for Reproductive Genetics

Find visual aids for patient discussions about reproductive genetics concepts such as noninvasive prenatal testing (NIPT).

Patient Education App: NIPT Insights

Designed to help patients explore and learn about prenatal screening and testing options through non-branded educational materials and tools.

NIPT Education for Health Care Providers

Learn about noninvasive prenatal testing, how to order the test for your patients, and insurance coverage.


Rare & Undiagnosed Disease Resources

Online Course: Clinical Sequencing in Rare Disease

This course offers an overview of pediatric rare disease, available testing options, and clinical implementation of genomic sequencing. This course may be relevant to laboratory providers, health care providers, health care organizations, and other individuals interested in a review of genomics in the rare disease population.

Rare Disease Genomics

Understanding the genomics of rare disease can help doctors pinpoint the cause of undiagnosed disorders, helping families avoid long diagnostic odysseys.

Educational Grants

Illumina is committed to the advancement of medicine and improvement of patient care by increasing awareness of the utility of genomics in medicine. The current areas of focus for independent medical education include:

  • The benefits of non-invasive prenatal testing (NIPT) via cell-free DNA (cfDNA) in routine care for all pregnant women
  • The advantages of genome wide NIPT and the emerging role of cfDNA in patient management across the pregnancy continuum
  • The value of genomic sequencing for select patient populations including patients with rare and undiagnosed disease, NICU patients, neurology patients, and cardiology patients
  • The benefits of comprehensive genomic profiling in solid tumors and circulating tumor DNA (ctDNA)
  • The role of actionable and emerging biomarkers in oncology care

All grant proposals are reviewed for compliance with our policies and relevant legal and industry requirements, including guidelines set forth by the Accreditation Council for Continuing Medical Education (ACCME). Requests for an educational grant should be submitted at least 90 days prior to the proposed program date and/or accreditation date. Please submit requests to

View templates available for grant proposals: Grant Proposal Template, and Grant Proposal Budget Template.

Clinical Trials

Clinical research trials are essential to our product development and clinical pipeline. We are committed to patient safety and value the importance of transparency. We are dedicated to sharing clinical trial information and data publicly. For more information about our involvement in clinical trials, visit