There is unequivocal evidence that most common illnesses, such as coronary atherosclerosis, diabetes, many cancers, obesity, and certain psychiatric diseases (eg, schizophrenia), are due to interactions between multiple genetic and environmental factors. While humans are 99.9% genetically alike, the dissimilarities of the remaining 0.1% of the human genome contribute importantly to the occurrence of human disease. These differences are composed of about 10 million common variants (present in 1% or more of alleles) and many more rare variants. Numerous reports have implicated genetic variations in the propensity toward (or resistance to) illness and the response to medical treatment. There has been considerable success in the use of genomics for mendelian disorders such as cystic fibrosis, Huntington disease, and hereditary breast-ovarian cancer (BRCA1 and BRCA2). However, many of the most common disorders lack simple mendelian inheritance and are impacted by multiple genetic events along with complex nongenetic modulators (eg, epigenetic events from environmental factors). The Human Genome Diversity Project aims to catalog and study human variation, thereby shedding light on complex illnesses.1
Register and get free email Table of Contents alerts, saved searches, PowerPoint downloads, CME quizzes, and more
Subscribe for full-text access to content from 1998 forward and a host of useful features
Activate your current subscription (AMA members and current subscribers)
Purchase Online Access to this article for 24 hours
Thank you for submitting a comment on this article. It will be reviewed by JAMA Internal Medicine editors. You will be notified when your comment has been published. Comments should not exceed 500 words of text and 10 references.
Do not submit personal medical questions or information that could identify a specific patient, questions about a particular case, or general inquiries to an author. Only content that has not been published, posted, or submitted elsewhere should be submitted. By submitting this Comment, you and any coauthors transfer copyright to the journal if your Comment is posted.
* = Required Field
Disclosure of Any Conflicts of Interest*
Indicate all relevant conflicts of interest of each author below, including all relevant financial interests, activities, and relationships within the past 3 years including, but not limited to, employment, affiliation, grants or funding, consultancies, honoraria or payment, speakers’ bureaus, stock ownership or options, expert testimony, royalties, donation of medical equipment, or patents planned, pending, or issued. If all authors have none, check "No potential conflicts or relevant financial interests" in the box below. Please also indicate any funding received in support of this work. The information will be posted with your response.
Some tools below are only available to our subscribers or users with an online account.
Download citation file:
Web of Science® Times Cited: 6
Customize your page view by dragging & repositioning the boxes below.
More Listings atJAMACareerCenter.com >
All results at
and access these and other features:
Enter your username and email address. We'll send you a link to reset your password.
Enter your username and email address. We'll send instructions on how to reset your password to the email address we have on record.
Athens and Shibboleth are access management services that provide single sign-on to protected resources. They replace the multiple user names and passwords necessary to access subscription-based content with a single user name and password that can be entered once per session. It operates independently of a user's location or IP address. If your institution uses Athens or Shibboleth authentication, please contact your site administrator to receive your user name and password.