Course : Whole genome and Whole Exome Sequencing for'Healthy' Individuals in Clinical Practice: Are We Up to the Challenge?

Held during the 2017 ACMG Annual Clinical Genetics Meeting in Phoenix, Arizona.  Click “Launch” for more information.




Genomic sequencing (whole genome and whole exome) has entered routine clinical practice for the diagnosis of genetic
disorders. The rapidly diminishing costs of such testing have also encouraged individuals who view themselves as
healthy to pursue screening through genomic sequencing. Sequencing as screening is already being advocated by many
clinicians in the wellness community. And, building upon the popularity of direct?to?consumer testing with SNP?based
arrays, direct?to?consumer sequencing is already being pursued by several companies.
Using genomic sequencing to screen ostensibly healthy individuals presents the health care system and its stakeholders
with interesting opportunities and challenges, in part because there is so little empirical evidence available. This session
will present perspectives and data from early experiences in this setting. Speakers will discuss the benefits, risks and
costs of utilizing genomic sequencing for screening, including the role of genetic counseling, types of genomic results
returned, patient acceptance, policy and regulatory implications. The use of family history and the issue of reanalysis in
light of new symptom development will also be addressed. This session will provide early data to help fill the knowledgegap
for clinical geneticists, counselors and laboratory directors in this rapidly developing area of practice.


All healthcare professionals interested in the diagnosis, management, treatment and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. These select sessions from the ACMG Annual Meeting are targeted for the following professionals:
• Medical and clinical geneticists
• Physicians of all specialties with an interest in genetics, genomics and the genetic basis of disease
• Genetic counselors
• Laboratory geneticists, directors, technicians and technologists
• Researchers
• Pathologists
• Educators
• Nurses
• Dietitians
• Physician assistants
• Biotechnology and pharmaceutical development professionals
• Fellows, Trainees and Students
• Public health professionals
• Genetic/consumer advocates
• Others with an interest in the science and art of medical genetics and genomics

Course Information without Educational Credit Please Click Here


Registration and Fees

Course only – No educational credits
ACMG Members and ACMG Trainees: ($20)
Non-members ($30)


At the conclusion of this course, participants should be able to:

1. Explain similarities and differences between a diagnostic genomic test and a genomic ‘screening’ test of ‘healthy’
2. Describe the types of genomic results (e.g. pharmacogenetics) that are generally reported in genomic testing of ‘healthy’
3. Describe counseling issues that uniquely arise in genomic testing of ‘healthy’ individuals
4. List challenges to the health care system posed by genomic testing of ‘healthy’ individuals

Purchase without Educational Credits