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Direct-to-Consumer Genetic Testing: Summary of a Workshop (2011)

Chapter: Appendix C: Currently Available Direct-to-Consumer Genetic Tests

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Page 51 Cite
Suggested Citation:"Appendix C: Currently Available Direct-to-Consumer Genetic Tests." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
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Appendix C
Currently Available Direct-to-Consumer Genetic Tests

DISEASE SUSCEPTIBILITY

Abdominal Aortic Aneurysm

Age-related Macular Degeneration

Alcohol Dependence

Alopecia Areata

Alzheimer’s Disease (late-onset)

Ankylosing Spondylitis

Asthma

Atopic Dermatitis

Atrial Fibrillation

Attention-Deficit Hyperactivity Disorder

Back Pain

Basal Cell Carcinoma

Bipolar Disorder

Bladder Cancer

Brain Aneurysm

Brain Cancer (Glioma)

Breast Cancer

Celiac Disease

Chronic Obstructive Pulmonary Disease (COPD)

Cleft Lip and Cleft Palate

Cluster Headaches

Colorectal Cancer

Creutzfeldt-Jakob Disease

Crohn’s Disease

Developmental Dyslexia

Diabetes (Gestational)

Diabetes (Type 1)

Diabetes (Type 2)

Endometriosis

Esophageal Cancer

Essential Tremor

Exfoliation Glaucoma

Follicular Lymphoma

Gallstones

Gout

Hashimoto’s Thyroiditis

Heart Attack

Heart Disease

High Blood Pressure (Hypertension)

Infertility (Male)

Intervertebral Disc Disease

Intrahepatic Cholestasis of

Pregnancy

Kidney Disease

Kidney Stones

Larynx Cancer

Page 52 Cite
Suggested Citation:"Appendix C: Currently Available Direct-to-Consumer Genetic Tests." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
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Lou Gehrig’s Disease (ALS)

Leukemia (Chronic Lymphocytic Leukemia)

Lung Cancer

Lupus (Systemic Lupus Erythematosus)

Multiple Sclerosis

Myasthenia Gravis

Neural Tube Defects

Neuroblastoma

Nonalcoholic Fatty Liver Disease

Obesity

Obsessive-Compulsive Disorder

Oral and Throat Cancer

Osteoarthritis

Osteoporosis

Otosclerosis

Ovarian Cancer

Paget’s Disease of Bone

Pancreatic Cancer

Parkinson’s Disease

Periodontal Disease

Peripheral Arterial Disease (PAD)

Placental Abruption

Preeclampsia

Primary Biliary Cirrhosis

Progressive Supranuclear Palsy

Prostate Cancer

Psoriasis

Restless Leg Syndrome

Rheumatoid Arthritis

Rheumatoid Arthritis (Juvenile)

Sarcoidosis

Schizophrenia

Sjögren’s Syndrome

Skin Cancer (Basal Cell Carcinoma)

Skin Cancer (Melanoma)

Stomach Cancer

Stroke

Tardive Dyskinesia

Testicular Cancer

Thrombosis

Thyroid Cancer

Tourette’s Syndrome

Ulcerative Colitis

Uterine Fibroids

TRAITS

ABO Blood Types

Alcohol Dependence

Alcohol Flush Reaction

Asparagus Metabolite Detection

Athletic Performance

Avoidance of Errors

Baldness (Common form)

Birth Weight

Bitter Taste Perception

Blood Glucose

Breastfeeding and IQ

C-reactive Protein Level

Cocaine Dependence

Compatibility (DNA Dating)

Earwax Type

Eye Color

Food Preference

Freckling

HDL Cholesterol Level

HIV Progression

Hair Color

Hair Curl

Hair Thickness

Height

Lactose Intolerance / Persistence

Leprosy Susceptibility

Page 53 Cite
Suggested Citation:"Appendix C: Currently Available Direct-to-Consumer Genetic Tests." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
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Longevity

Malaria Complications

Malaria Resistance (Duffy Antigen)

Measures of Intelligence

Measures of Obesity

Memory

Metabolic Health

Muscle Performance

Nicotine Dependence

Non-ABO Blood Groups

Norovirus Resistance

Nutritional Needs

Odor Detection

Pain Sensitivity

Persistent Fetal Hemoglobin

Photic Sneeze Reflex

Red Hair Color

Resistance to HIV/AIDS

Response to Diet and Exercise

Sex Hormone Regulation

Short Stature

Tuberculosis Susceptibility

Weight Loss

CARRIER/DIAGNOSTIC TESTING

Abetalipoproteinemia (Selected Ashkenazi Jewish Specific Mutations)

Adrenal Hypoplasia, classic and non-classic (Selected Ashkenazi Jewish Specific Mutations)

Alpha-1 Antitrypsin Deficiency

Beta/Sickle Cell Disease

BRCA Cancer Mutations (Selected)

Bloom’s Syndrome

Canavan Disease

Chorea-Acanthocytosis (Selected Ashkenazi Jewish Specific Mutations)

Connexin 26-Related Sensorineural Hearing Loss

Cystic Fibrosis

Factor V Leiden

Factor XI Deficiency

Familial Dysautonomia

Familial Hypercholesterolemia

Familal Hyperinsulinemia (Selected Ashkenazi Jewish Specific Mutations)

Familial Mediterranean Fever

Fanconi Anemia (Selected Ashkenazi Jewish Specific Mutations)

G6PD Deficiency

Gaucher Disease

Glycogen Storage Disease Type 1a

Hemochromatosis

Limb-girdle Muscular Dystrophy

Maple Syrup Urine Disease Type 1B

Mucolipidosis IV

Nemaline Myopathy (Selected Ashkenazi Jewish Specific Mutations)

Niemann-Pick Disease Type A

Phenylketonuria

Prothrombin II

Rhizomelic Chondrodysplasia Punctata Type 1 (RCDP1)

Page 54 Cite
Suggested Citation:"Appendix C: Currently Available Direct-to-Consumer Genetic Tests." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
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Sickle Cell Anemia & Malaria Resistance

Spinal Muscular Atrophy

Tay-Sachs Disease

Torsion Dystonia

Usher Syndrome, Types 1F and 3 (Selected Ashkenazi Jewish Specific Mutations)

DRUG RESPONSE

Abacavir Hypersensitivity

Alcohol Metabolism

Antidepressant Response

Asthma Medication Response

Beta-Blocker Response

Caffeine Metabolism

Carbamazepine Response

Clopidogrel (Plavix®) Efficacy

Floxacillin Toxicity

Fluorouracil Toxicity

Heroin Addiction

Irinotecan Response

Naltrexone Treatment Response

Postoperative Nausea and Vomiting (PONV)

Pseudocholinesterase Deficiency

Response to Hepatitis C Treatment

Response to Interferon Beta Therapy

Simvastatin Response

Statin Response (Stain Induced Myopathy)

Succinylcholine Response

Thiopurines Response

Tamoxifen

Warfarin (Coumadin®) Sensitivity

OTHER SERVICES

Ancestry Testing

Biological Relationship/Kinship testing

Genetic Counseling


Information courtesy of AccessDNA® www.AccessDNA.com, August 2010.

Page 51 Cite
Suggested Citation:"Appendix C: Currently Available Direct-to-Consumer Genetic Tests." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
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Page 51
Page 52 Cite
Suggested Citation:"Appendix C: Currently Available Direct-to-Consumer Genetic Tests." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
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Page 52
Page 53 Cite
Suggested Citation:"Appendix C: Currently Available Direct-to-Consumer Genetic Tests." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
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Page 53
Page 54 Cite
Suggested Citation:"Appendix C: Currently Available Direct-to-Consumer Genetic Tests." Institute of Medicine and National Research Council. 2011. Direct-to-Consumer Genetic Testing: Summary of a Workshop. Washington, DC: The National Academies Press. doi: 10.17226/13021.
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Next: Appendix D: Representative Direct-to-Consumer Genetic Testing Companies »
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Today, scores of companies, primarily in the United States and Europe, are offering whole genome scanning services directly to the public. The proliferation of these companies and the services they offer demonstrate a public appetite for this information and where the future of genetics may be headed; they also demonstrate the need for serious discussion about the regulatory environment, patient privacy, and other policy implications of direct-to-consumer (DTC) genetic testing.

Rapid advances in genetic research already have begun to transform clinical practice and our understanding of disease progression. Existing research has revealed a genetic basis or component for numerous diseases, including Parkinson's disease, Alzheimer's disease, diabetes, heart disease, and several forms of cancer. The availability of the human genome sequence and the HapMap, plummeting costs of high-throughput screening, and increasingly sophisticated computational analyses have led to an explosion of discoveries of linkages between patterns of genetic variation and disease susceptibility. While this research is by no means a straight path toward better public health, improved knowledge of the genetic linkages has the potential to change fundamentally the way health professionals and public health practitioners approach the prevention and treatment of disease. Realizing this potential will require greater sophistication in the interpretation of genetic tests, new training for physicians and other diagnosticians, and new approaches to communicating findings to the public. As this rapidly growing field matures, all of these questions require attention from a variety of perspectives.

To discuss some of the foregoing issues, several units of the National Academies held a workshop on August 31 and September 1, 2009, to bring together a still-developing community of professionals from a variety of relevant disciplines, to educate the public and policy-makers about this emerging field, and to identify issues for future study. The meeting featured several invited presentations and discussions on the many technical, legal, policy, and ethical questions that such DTC testing raises, including: (1) overview of the current state of knowledge and the future research trajectory; (2) shared genes and emerging issues in privacy; (3) the regulatory framework; and (4) education of the public and the medical community.

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