HMX Fundamentals
Genetics

• Course introduction
• Meet the faculty
• Introduction to the human genome

• The relationship between genotype and phenotype
• Structure of a human gene and the effects of genetic variation

• Meiotic segregation
• Modes of inheritance
• Pedigree analysis
• Penetrance and expressivity

• Haplotypes and linkage studies
• Determining causation of a variant
• Targeted genetic testing

• DNA segregation machinery
• Whole chromosome and structural aneuploidy
• Diagnostic techniques for chromosomal disorders

• Germline and somatic mutations
• Tumor suppressors and oncogenes
• Two hit hypothesis
• Precision cancer treatments

• Architecture of a complex trait
• Genome-wide association studies
• Heritability and missing heritability
• Understanding risk in common complex traits

• Emergence and history of human traits
• Evolutionary forces and population dynamics
• Ancestry testing and population-specific risk

• Mitochondrial inheritance
• Unstable repeats
• Epigenetic inheritance and imprinting
• Gene dosage and X-inactivation

• Whole genome sequencing
• Pharmacogenomics
• Genome editing

Christine DeGennaro, PhD

Lecturer in Genetics, Harvard Medical School

Why do you think it’s important for aspiring health care professionals to learn genetics?

As DNA sequencing becomes cheaper and more readily available, the role of genetics in medicine is expanding. With our increasing understanding of the variation in the human genome, we can start to predict how specific changes in DNA sequence will affect an individual’s health. Human genetics is extremely complicated, but it is apparent that many human diseases are influenced by genetics. From a medical perspective, this includes everything from rare DNA sequence variants that drastically increase risk of a disease, to common variants that lead to small changes in risk.

Historically, genetics specialists have helped patients to navigate these situations, but genetics is beginning to permeate medicine as a whole. This means that health care professionals across many fields are faced with new questions. When do you recommend genetic testing to a patient? What kind of testing will provide the most conclusive results? How do you help the patient to understand those results, and use them to make decisions about his or her care? Moving forward, an understanding of the principles of genetics and an ability to apply them in today’s medical landscape will be an enormous asset for any health care professional.

What do you want students to take away from this course?

Even outside of medicine, genetics has a very important presence in our world today, so, fundamentally, what I would like students to take away from this course is a level of genetic literacy that will allow them to navigate the questions and decisions that they will face in their own lives.

Direct-to-consumer genetic testing now allows everyone to learn about their own genetics; these tests can potentially include information about health and disease risk and ancestry that have significant impacts for individuals and their families. When making decisions about genetic testing, it is important to be informed about exactly what you will learn and what the consequences of the results might be down the line. In this course, we put the fundamental principles of human genetics into the context of the world today, which will provide students with the tools and resources to ask the right questions and make informed genetic decisions.

Robert C. Green, MD, MPH

Professor of Medicine, Harvard Medical School
Associate Physician, Brigham and Women’s Hospital
Geneticist, Brigham and Women’s Hospital
Director, Genomes2People Research Program at Brigham and Women’s Hospital

Why are you interested in genetics and genomics?

Genomics is inherently exciting, and you can see that because of its relationship to forensic law enforcement, reproduction, ancestry, cancer and all sorts of medical developments, and all of the controversy related to direct-to-consumer genetic testing.

The skeleton of genetics is sequencing, and people are building on that – with gene expression, proteomics, metabolomics. So there are multiple layers of knowledge and exploration that are generating tremendous excitement in the world, and motivating enormous investment – scientifically, educationally, financially, and entrepreneurially. So the question isn’t really why I’m interested in genomics, the question is why isn’t everybody interested in genomics because it’s so fabulously interesting.

Carrie Blout, MS, CGC, LGC

Senior Genetic Counselor and Project Manager, Brigham & Women’s Hospital

Why do you think it’s important for aspiring health care professionals to learn genetics?

Genetics is really a subspecialty of all specialties. The more we understand the genetic basis of biology, the more we will understand human health and disease. Having a strong background in genetics will be important as genomic technologies continue to expand and are implemented more and more into clinical care. Understanding how to look for patterns of disease and when to refer a patient to other specialists is an important tool for every health care provider, and as more patients have genetic results in their medical records, having the ability to understand how this is or is not important to your patients’ medical care will be of the utmost importance. Overall a global knowledge of genetics will help you to provide better care to your future patients.

What do you want students to take away from this course?

I hope students are able to grasp some of the basic concepts about genetics and to understand why it is a vital part of medical care. I hope that this background knowledge will be useful to them if and when they care for patients who come to them with a genetic test result, a family history of genetic disease or a presenting genetic diagnosis. I hope this course excites them about the concept of genetics and genomics and encourages them to want to learn more as their career progresses.

View a full list of HMX genetics faculty.

Siyan Xu

Novartis

“The topics are so well organized, and I think the lectures cover those fundamental ideas very well.”

Layne Wells

Genetic counseling assistant

“[The course] addressed a lot of the complexity of the genetics field that’s often really hard to get into in a typical genetics class.”

Jacques Balayla, MD

“I found that the way [HMX] organized the course was just the right approach; it makes sense cohesively without going into too much unnecessary detail or too much memorization. Though I was not completely new to the topic, it felt like I was learning again because of the way that it was provided.”