Clinical genetics is an integral part of pediatrics. Genetic diseases are common in childhood: as many as 53 per 1000 children and young adults can be expected to have diseases with an important genetic component.1 This rate increases to 79 per 1000 if congenital anomalies are included.1 In addition, 12% to 40% of all pediatric hospitalizations are for genetic diseases and birth defects.2- 4 Despite its importance in primary care pediatrics, genetics has maintained its subspecialty status. Newborn screening for genetic diseases is the only aspect of genetics that has been incorporated as routine pediatric practice.5
Genetic testing in high-risk children (ie, children who have symptoms or are from a high-risk family).
Genetic screening and testing in low-risk children (ie, children who are asymptomatic and are from a low-risk family).
Genetic testing for carrier status (ie, an autosomal recessive or sex-linked condition in which the carrier status confers no or minimal risk of morbidity or mortality but is important for reproductive decisions).
Thank you for submitting a comment on this article. It will be reviewed by JAMA Pediatrics 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: 46
Customize your page view by dragging & repositioning the boxes below.
More Listings atJAMACareerCenter.com >
Care at the Close of Life: Evidence and Experience
Moral and Legal Framework
Users' Guides to the Medical Literature
All results at
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.