clinical practice. An EBG focuses on a specific scientific question and then describes recommendations intended to optimize patient care that are informed
by a systematic review of evidence and an assessment of the benefits and harms of alternative care options. ACMG EBGs are provided primarily as an
educational resource for medical geneticists and other clinicians to help them provide quality medical services. They should not be considered inclusive of
all relevant information on the topic reviewed.
Reliance on this EBG is completely voluntary and does not necessarily ensure a successful medical outcome. In determining the propriety of any specific
procedure or test, the clinician should consider the best available evidence, and apply their own professional judgment, taking into account the needs,
preferences and specific clinical circumstances presented by the individual patient. Clinicians are encouraged to document the reasons for the use of a
particular procedure or test, whether or not it is in conformance with this EBG. Clinicians are also advised to take notice of the date this EBG was
published, and to consider other medical and scientific information that becomes available after that date. Where individual authors are listed, the views
expressed may not reflect those of authors’ employers or affiliated institutions.
Requests for permissions must be directed to the American College of Medical Genetics and Genomics, as rights holder.
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