Actionability curations

The summaries provide information on gene-condition pairs that meet a clinical actionability threshold for pathologic variants in the gene, and are prepared using a transparent, systematic, evidence-based process. A protocol guides the summary development, which includes quality rating of the evidence. An expert panel reviews the summaries and applies a semi-quantitative method to score the overall clinical actionability of gene variants discovered incidental to another diagnostic investigation. For scoring, specific intervention-outcome pairs are chosen for each genetic disorder under consideration. Clinical interventions are chosen based on their effectiveness for prevention or delay of clinical disease, lowered clinical burden, or improved clinical outcomes in a previously undiagnosed adult.
Gene Condition Outcome / Intervention Pair and Scores Report
Surgical complications/High risk surgical and anesthesia management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Perinatal or delivery complications/High risk pregnancy management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Rhabdomyolosis, muscle cramps, and exercise intolerance/Multidisciplinary care (which includes initial evaluation with echocardiography, dietary modification with MCT supplementation as appropriate, and exercise guidance)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 05/15/2017
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysm/Aortic surveillance
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 05/13/2015
Sudden cardiac death/ICD
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/07/2015
Anticipatory treatment to avoid PAVM morbidity/TTCE
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Anticipatory treatment to avoid CAVM morbidity/Cerebral MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 1-4% chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 12/07/2015
Colorectal Cancer/Colectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Greater Risk
View Details - 05/13/2014
High cholesterol/LDL apheresis
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
High cholesterol/Statins
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 04/14/2015
High cholesterol/Statins
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 04/14/2015
Neuropsychiatric Disease/Chelation and Zinc Therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
Liver Disease/Chelation and Zinc Therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 09/14/2015
GI Cancer/Endoscopic Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 12/18/2015
Ovarian Cancer/Oophorectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Breast Cancer/Mastectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Breast Cancer/Breast surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 01/28/2014
Ovarian Cancer/Oophorectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Breast Cancer/Mastectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Breast Cancer/Breast surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 01/28/2014
Cutaneous manifestations/Biotin therapy
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Neurological complications/Biotin therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 07/11/2016
Morbidity from MH event/Avoidance of triggering anesthetics
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 06/15/2015
(Pyridoxine non-responsive) Thromboembolism/Prophylactic anti-coagulation in pregnancy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
(Pyridoxine non-responsive) Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings)/Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
(Pyridoxine non-responsive) Thromboembolism/Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
(Pyridoxine responsive) Thromboembolism/Prophylactic anti-coagulation in pregnancy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
(Pyridoxine responsive) Systemic manifestations (includes CNS disease, skeletal findings, and ocular findings)/Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
(Pyridoxine responsive) Thromboembolism/Dietary modifications (includes pyridoxine, methionine-restriction, betaine, folate, and B12 supplements)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 09/12/2016
Hemorrhage/Delivery management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
Hemorrhage/MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
Hemorrhage/Medication (simvastatin, fasudil)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 04/03/2017
Morbidity from advanced renal lesions/Surveillance with renal ultrasound
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Complications of osseous fibromas/Surveillance with panoramic radiograph
Outcome
Severity: Modest Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Morbidity from primary hyperparathyroidism/Surveillance of parathyroid hormone and calcium
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 04/03/2017
Breast cancer/Risk reducing mastectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Breast cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Gastric cancer/Risk reducing gastrectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: High Risk
Gastric cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
View Details - 08/08/2016
Breast cancer/Risk reducing mastectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Breast cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Gastric cancer/Risk reducing gastrectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: High Risk
Gastric cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
View Details - 08/08/2016
Pancreatic cancer morbidity and/or mortality/Smoking cessation and/or avoidance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Pancreatic cancer morbidity and/or mortality/Periodic pancreatic imaging
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
Melanoma morbidity and/or mortality/Skin Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 01/09/2017
Vascular or organ rupture or perforation/ Avoidance of invasive procedures
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/01/2014
Perinatal complications/High-risk pregnancy management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
Musculoskeletal morbidity/Physical/occupational therapy program
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
View Details - 02/13/2017
Perinatal complications/High-risk pregnancy management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
Musculoskeletal morbidity/Physical/occupational therapy program
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
View Details - 02/13/2017
Sudden cardiac death/Antiarrhythmic therapy
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Sudden cardiac death/Implantable Cardioverter Defibrillator
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/14/2015
Sudden cardiac death/Antiarrhythmic therapy
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Sudden cardiac death/Implantable Cardioverter Defibrillator
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/14/2015
Sudden cardiac death/Antiarrhythmic therapy
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Sudden cardiac death/Implantable Cardioverter Defibrillator
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/14/2015
Demyelinating peripheral neuropathy/Avoidance of Vincristine
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Demyelinating peripheral neuropathy/Regular medical evaluations
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 05/28/2014
Anticipatory treatment to avoid PAVM morbidity/TTCE
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Anticipatory treatment to avoid CAVM morbidity/Cerebral MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 12/07/2015
Endometrial Cancer/Risk Reducing Surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Endometrial Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Colorectal Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 04/03/2014
VTE/Pharmacological prophylaxis
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Greater Risk
VTE/Avoid estrogen-containing compounds that exacerbate VTE risk
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
VTE/Assessment for VTE risk factors
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness:
Intervention:
View Details - 05/16/2016
VTE/Pharmacological prophylaxis for men and non-pregnant women
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Moderate Risk
VTE/Pharmacological prophylaxis for pregnant women
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
VTE/Avoid estrogen containing compounds that exacerbate VTE risk
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
VTE/Assessment for VTE risk factors
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness:
Intervention:
View Details - 04/25/2016
Severe or prolonged hemorrhage/Development and implementation of comprehensive management plan based on activity levels (Females)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Severe or prolonged hemorrhage/Development and implementation of comprehensive management plan based on activity levels (Males)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/13/2016
Severe or prolonged hemorrhage/Development and implementation of comprehensive management plan based on activity levels (Females)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Severe or prolonged hemorrhage/Development and implementation of comprehensive management plan based on activity levels (Males)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/13/2016
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysms/Surveillance
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 03/20/2015
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysm/Aortic surveillance
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 05/13/2015
Advanced uterine pathology/Annual GYN Exam
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Renal Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 09/15/2015
Morbidity and mortality from masses/Imaging to detect renal masses when intervention is effective
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 05/16/2016
Severe or life-threatening infections/Vaccination and aggressive prevention/treatment of infections
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
Impaired pulmonary function/Enzyme replacement therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Musculoskeletal morbidity/Enzyme replacement therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Musculoskeletal morbidity/Comprehensive care by a multidisciplinary team (includes physical therapy/exercise program, early treatment of infections, appropriate surveillance, etc.)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
View Details - 01/09/2017
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease)/Surveillance and initiation of ERT
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/25/2016
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease)/Surveillance and initiation of ERT
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/25/2016
Prevention of major manifestations (including hepatosplenomegaly, pancytopenia, and bone disease)/Surveillance and initiation of ERT
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/25/2016
Neuromuscular dysfunction / Avoidance of oral contraceptives
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Neuromuscular dysfunction / Levodopa therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Neuromuscular dysfunction / Regular examinations and surveillance by a movement disorder specialist
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 06/19/2017
Anticipatory treatment to avoid PAVM morbidity/TTCE
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Anticipatory treatment to avoid CAVM morbidity/Cerebral MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 12/07/2015
Stroke prevention/aspirin (female)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
Stroke prevention/aspirin (late onset male)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
Stroke prevention/aspirin (classic male)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
End stage organ disease/ERT (females)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
End stage organ disease/ERT (late on-set males)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
End stage organ disease/ERT (classic males)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
View Details - 06/24/2015
Clinically apparent disease/Phlebotomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically apparent disease/Monitoring ferritin levels
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 05/23/2016
Morbidity of acute attacks/Optimal treatment (Hemin) in the event of an attack
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Hepatocellular carcinoma/Liver US surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Neurovisceral attacks/Optimal clinical management to reduce risk of attacks (e.g., avoidance of harmful medications, dietary advice, treatment of infections, avoidance of smoking/alcohol)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 10/10/2016
Glycemic control/Sulfonylureas and optimal diabetic control
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 08/26/2015
Sudden cardiac death/ICD implantation
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Sudden cardiac death/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 07/09/2015
Sudden cardiac death/ICD implantation
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Sudden cardiac death/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 07/09/2015
Hemorrhage/Delivery management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
Hemorrhage/MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
Hemorrhage/Medication (simvastatin, fasudil)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 04/03/2017
High cholesterol/Statins
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 04/14/2015
Demyelinating peripheral neuropathy/Avoidance of Vincristine
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Demyelinating peripheral neuropathy/Regular medical evaluations
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 05/28/2014
Sudden cardiac death/Surveillance and ICD
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Sudden cardiac death/Surveillance and Pharmacotherapy
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Heart failure/Surveillance and ACE inhibitors
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 07/29/2015
Significant morbidity/Monitor kidney function (Vitamin B12 non-responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Protein restriction (Vitamin B12 non-responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Significant morbidity/Vitamin B12 (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Monitor kidney function (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Protein restriction (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
View Details - 08/18/2015
Joint problems/Colchicine
Outcome
Severity: Modest Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
Amyloidosis/Colchicine
Outcome
Severity: Modest Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
Recurrent serositis/Colchicine
Outcome
Severity: Modest Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 09/12/2016
Joint problems/Colchicine
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
Amyloidosis/Colchicine
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
Recurrent serositis/Colchicine
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 09/12/2016
Morbidity from other neuroendocrine tumors/Imaging surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Morbidity from other neuroendocrine tumors/Biochemical surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Morbidity from parathyroid adenoma/Biochemical surveillance
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 06/04/2015
Morbidity/mortality associated with papillary renal cell carcinoma/Periodic surveillance via renal CT imaging
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 02/13/2017
Endometrial Cancer/Risk Reducing Surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Endometrial Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Colorectal Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 04/03/2014
Significant morbidity/Monitor kidney function (Vitamin B12 non-responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Protein restriction (Vitamin B12 non-responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Significant morbidity/Vitamin B12 (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Monitor kidney function (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Protein restriction (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
View Details - 08/18/2015
Significant morbidity/Monitor kidney function (Vitamin B12 non-responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Protein restriction (Vitamin B12 non-responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Significant morbidity/Vitamin B12 (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Monitor kidney function (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Protein restriction (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
View Details - 08/18/2015
Significant morbidity/Monitor kidney function (Vitamin B12 non-responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Protein restriction (Vitamin B12 non-responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Significant morbidity/Vitamin B12 (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Monitor kidney function (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Protein restriction (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
View Details - 08/18/2015
Demyelinating peripheral neuropathy/Avoidance of Vincristine
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Demyelinating peripheral neuropathy/Regular medical evaluations
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 05/28/2014
Endometrial Cancer/Risk Reducing Surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Endometrial Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Colorectal Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 04/03/2014
Endometrial Cancer/Risk Reducing Surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Endometrial Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Colorectal Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 04/03/2014
Significant morbidity/Monitor kidney function (Vitamin B12 non-responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Protein restriction (Vitamin B12 non-responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Significant morbidity/Vitamin B12 (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Monitor kidney function (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Significant morbidity/Protein restriction (Vitamin B12 responsive)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
View Details - 08/18/2015
Colorectal Cancer/Regular colonoscopy or polypectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 05/16/2014
Sudden cardiac death/ICD
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/07/2015
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysm/Aortic surveillance
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 05/13/2015
Sudden cardiac death/ICD
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/07/2015
Sudden cardiac death/ICD
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/07/2015
Sudden cardiac death/ICD
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/07/2015
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysm/Aortic surveillance
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 05/13/2015
Demyelinating peripheral neuropathy/Avoidance of Vincristine
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Demyelinating peripheral neuropathy/Regular medical evaluations
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 05/28/2014
Breast Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Malignant peripheral nerve sheath tumors/Consultation with a provider experienced with NF1 for educational purposes
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 06/05/2017
Vestibular schwannoma/MRI and Screening
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 06/20/2014
Stroke/specialist care and management (initial evaluations, antiplatelet therapy, balanced diet, monitoring during anesthesia, cholinesterase inhibitor, and psychological counseling)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
View Details - 07/28/2016
Hyperammonemic encephalopathy/Nitrogen Scavengers (Men)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Hyperammonemic encephalopathy/Nitrogen Scavengers (Women)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Hyperammonemic encephalopathy/Dietary modification (Men)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Hyperammonemic encephalopathy/Dietary modification (Women)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 12/15/2015
Fetal teratogenicity (females only)/Pregnancy management of PHE levels
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
Suboptimal plasma PHE levels/Optimal dietary and medical management to achieve goal PHE levels (includes PHE restriction, Sapropterin, and LNAAs)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 10/10/2016
Breast cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Breast cancer/Mastectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Breast cancer/Chemoprevention
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 12/21/2015
Breast cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Breast cancer/Mastectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Breast cancer/Chemoprevention
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 12/21/2015
High cholesterol/Statins
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 04/14/2015
Hemorrhage/Delivery management
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
Hemorrhage/MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
Hemorrhage/Medication (simvastatin, fasudil)
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 04/03/2017
Aortic Valve Replacement/Aortic Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Significant Morbidity/MRA Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
End Stage Renal Disease/Blood Pressure Control
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
View Details - 07/27/2015
Aortic Valve Replacement/Aortic Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Significant Morbidity/MRA Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
End Stage Renal Disease/Blood Pressure Control
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
View Details - 07/27/2015
Sudden cardiac death/Antiarrhythmic therapy
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Sudden cardiac death/Implantable Cardioverter Defibrillator
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/14/2015
Neuropathy/Circumstances to avoid
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
View Details - 05/13/2014
Demyelinating Peripheral Neuropathy/Regular Medical Evaluations
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
Demyelinating Peripheral Neuropathy/Avoidance of Vincristine
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 05/28/2014
Endometrial Cancer/Risk Reducing Surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Endometrial Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Colorectal Cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 04/03/2014
Sudden cardiac death/ICD
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/07/2015
Morbidity from basal cell carcinomas/Minimization of radiation
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Morbidity from basal cell carcinomas/Sun avoidance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Morbidity from basal cell carcinomas/Skin surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Morbidity from odontogenic keratocysts/Panorex surveillance
Outcome
Severity: Modest Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 11/28/2016
Thyroid cancer/Ultrasounds
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Breast cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 07/11/2014
Hyperparathyoidism/Biochemical surveillance
Outcome
Severity: Modest Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Pheochromocytoma/Biochemical surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Medullary thyroid cancer/Thyroidectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
View Details - 06/04/2015
Hyperparathyoidism/Biochemical surveillance
Outcome
Severity: Modest Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Pheochromocytoma/Biochemical surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Medullary thyroid cancer/Thyroidectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
View Details - 06/04/2015
Pheochromocytoma/Biochemical surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Medullary thyroid cancer/Thyroidectomy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
View Details - 06/04/2015
Morbidity from MH event/Avoidance of triggering anesthetics
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 06/15/2015
Sudden Cardiac Death/Beta Blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 06/29/2015
Sudden cardiac death/ICD implantation
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Sudden cardiac death/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
View Details - 07/09/2015
Sudden Cardiac Death/Implantable Cardioverter Defibrillator
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 04/10/2015
Paraganglioma development/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 03/15/2015
Paraganglioma development/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 03/15/2015
Paraganglioma development/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 03/15/2015
Paraganglioma development/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 03/15/2015
Emphysema/A1AT augmentation therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Moderate Risk
Liver disease/Limit alcohol consumption
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
COPD/Smoking cessation
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Identify those at risk to and institute interventions appropriate to severity/Serum A1AT measurement
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 07/25/2016
Liver failure/Liver transplantation
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Highly Effective
Intervention: High Risk
Hepatic encephalopathy/Dietary modification with arginine and sodium pyruvate supplementation
Outcome
Severity: Possible death or Major Morbidity
Likelihood: <1% chance or unknown
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
View Details - 06/05/2017
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysm/Aortic surveillance
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 05/13/2015
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysm/Surveillance
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 03/20/2015
Anticipatory treatment to avoid PAVM morbidity/TTCE
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Anticipatory treatment to avoid CAVM morbidity/Cerebral MRI
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 1-4% chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 12/07/2015
GI Cancer/Endoscopic Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
View Details - 12/18/2015
Colorectal cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Ovarian cancer/Prophylactic surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Ovarian cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
Breast cancer/Chemoprevention
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Breast cancer/Prophylactic surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Breast cancer/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 03/10/2015
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysm/Aortic surveillance
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 05/13/2015
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysm/Surveillance
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 03/20/2015
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysm/Aortic surveillance
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 05/13/2015
Aortic dilation progression/Beta blockers
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Clinically significant aortic aneurysm/Surveillance
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
View Details - 03/20/2015
Sudden cardiac death/Antiarrhythmic therapy
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Moderate Risk
Sudden cardiac death/Implantable Cardioverter Defibrillator
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/14/2015
Sudden cardiac death/ICD
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/07/2015
Sudden cardiac death/ICD
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/07/2015
Sudden cardiac death/Surveillance and ICD
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Sudden cardiac death/Surveillance and Pharmacotherapy
Outcome
Severity: Sudden Death
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Heart failure/Surveillance and ACE inhibitors
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 07/29/2015
Ovarian cancer/Avoidance of radio therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
CNS tumors/Avoidance of radio therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
CNS tumors/Cancer-specific or general surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Minimally Effective
Intervention: Low Risk
Adrenocortical tumors/Avoidance of radio therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Colorectal cancer/Cancer-specific or general surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Moderate Risk
Ovarian cancer/Prophylactic surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Adrenocortical tumors/Cancer-specific or general surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Colorectal cancer/Prophylactic surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
Sarcomas/Cancer-specific or general surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Breast cancer/Avoidance of radio therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Sarcomas/Avoidance of radio therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Breast cancer/Cancer-specific or general surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Colorectal cancer/Avoidance of radio therapy
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
Ovarian cancer/Cancer-specific or general surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Ineffective/No Intervention
Intervention: Low Risk
Breast cancer/Prophylactic surgery
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Greater Risk
View Details - 01/07/2015
Sudden cardiac death/ICD
Outcome
Severity: Sudden Death
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 06/07/2015
LAM development in women/mTOR inhibitor treatment
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Morbidity and mortality from non-SEGA, non-LAM tumors/imaging to detect massses when intervention is effective
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
SEGA development/mTOR inhibitor treatment
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/21/2015
LAM development in women/mTOR inhibitor treatment
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
Morbidity and mortality from non-SEGA, non-LAM tumors/imaging to detect massses when intervention is effective
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
SEGA development/mTOR inhibitor treatment
Outcome
Severity: Possible death or Major Morbidity
Likelihood: 5-39% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Moderate Risk
View Details - 07/21/2015
Renal Cell Carcinoma/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Highly Effective
Intervention: Low Risk
Pheochromocytoma/Surveillance
Outcome
Severity: Possible death or Major Morbidity
Likelihood: >40% Chance
Intervention
Effectiveness: Moderately Effective
Intervention: Low Risk
View Details - 03/12/2015