Supplemental Table S1: Participating Guideline Developers and Brief Description
Discretionary Advisory
Committee on Heritable
Disorders in Newborns and
Children (DACHDNC)
The DACHDNC provides recommendations to Secretary of Health and Human Services on what on
the most appropriate application of universal newborn screening tests, technologies, policies,
guidelines and standards. In January 2013, DACHDNC approved use of decision matrix to evaluate
the net benefit and certainty of each condition placed on the NBS panel.
American College of Medical
Genetics and Genomics (ACMG)
*
ACMG is an organization composed of biochemical, clinical, cytogenetic, medical and molecular
geneticists, genetic counselors and other health care professionals committed to the practice of
medical genetics. The ACMG guideline development group is a multidisciplinary group which
includes a review by a conflict of interest committee and funders have no role in development of
their recommendations.
American Society of Clinical
Oncology (ASCO) *
ASCO is a professional oncology society committed to conquering cancer through research,
education, prevention and delivery of high-quality patient care. ASCO expert panels identify and
develop practice recommendations for specific areas of cancer care that would benefit from using
practice guidelines.
Association for Molecular
Pathology (AMP)
AMP is a not-for-profit scientific society that advances the clinical practice, science, and excellence
of molecular and genomic laboratory medicine through education, innovation, and advocacy. AMP
Clinical Practice Guidelines and Reports are developed to be of assistance to laboratory and other
health care professionals.
BlueCross BlueShield Technology
Evaluation Center (TEC) *
BCBS TEC produces systematic reviews of genetic tests. Each TEC Assessment is an evaluation of
the evidence for clinical effectiveness and clinical utility of a medical procedure, device, drug or
diagnostics. Recent TEC Assessments are available to the public at bcbs.com/TEC.
Office of Public Health Genomics
(OPHG), Centers for Disease
Control and Prevention,
OPHG categorizes genomic tests and family health history in practice according to three levels of
evidence based on a systematic review of analytic validity, clinical validity and utility for specific
clinical scenarios.
Clinical Pharmacogenetics
Implementation Consortium
(CPIC) *
CPIC provides guidelines that enable the translation of genetic laboratory test results into
actionable prescribing decisions for specific drugs. Guidelines are designed to help clinicians
understand HOW available genetic test results should be used to optimize drug therapy, rather
than whether tests should be ordered.
Evaluation of Genomic
Applications in Practice and
Prevention (EGAPP) working
group *
A CDC initiative, EGAPP is a non-regulatory, independent group whose purpose is to conduct
evidence-based evaluations of genetic tests and other applications of genomic technology that are
available or emerging into clinical and public health practice.
Grading of Recommendations
Assessment, Development and
Evaluation (GRADE) working
group
The GRADE working group's aim is to develop a common, sensible approach to grading quality of
evidence and strength of recommendation. GRADE assesses quality of evidence (confidence of
effect estimate – high/moderate/low/very low) and strength of recommendation (confidence that
adherence to recommendation will do more good than harm – strong/weak)
Dutch Pharmacogenetics
Working Group (DPWG) *
The DPWG is convened by the Royal Dutch Pharmacists Association and includes clinical
pharmacists, physicians, clinical pharmacologists, clinical chemists, epidemiologists, and
toxicologists. The objective of the DPWG is to develop pharmacogenetics-based therapeutic (dose)
recommendations. The recommendations do not indicate patients who are eligible for genotyping,
but merely aim to optimize drug use patients whose genotypes are known.
National Comprehensive Cancer
Network (NCCN) *
NCCN is an alliance of 21 cancer centers for patient care, research, and education and 48
multidisclipinary panels of volunteer experts. Their guidelines span the continuum of cancer care.
National Society of Genetic
Counselors - Practice Guidelines
Committee *
NSGC promotes the professional interests of genetic counselors and provides a network for
professional communication. NSGC develops practice guidelines to address topics that affect the
practice of genetic counseling.
UK Genetic Testing Network
(UKGTN), NHS
UKGTN is an advisory organisation that provides comission support to the National Health Service
and Department of Health for patients in the UK. The UKGTN evaluates new genetic tests that
member laboratories would like to offer to NHS patients and which fall within the remit of UKGTN
test evaluation.
* indicates participation in Table 1 survey