Returning Research Results to Biobank Participants
July 12, 2017
The Partners Biobank has started returning research results to Biobank participants. These results are genetic variants, also called mutations, that indicate a high risk of developing certain conditions and diseases. The purpose of returning research results is to provide Biobank participants with information that could positively impact their clinical care. Results being returned are genetic variants that the American College of Medical Genetics (ACMG) defines as being actionable. This means that there are screening tests and/or preventative measures for people who have these variants.
The Partners Biobank has started returning research results to Biobank participants. These results are genetic variants, also called mutations, that could indicate a high risk of developing certain conditions and diseases if the research result is validated by a clinical test. The purpose of returning research results is to provide Biobank participants with information that could positively impact their clinical care.
Results being returned are genetic variants that the American College of Medical Genetics (ACMG) defines as being actionable. This means that there are screening tests and/or preventive measures for people who have these variants.
Examples include variants that are associated with higher risks of developing breast and ovarian cancer, colon cancer, or cardiomyopathy. As genetic knowledge increases, the list of variants that are considered medically actionable may grow. Biobank staff will regularly review all the DNA we have analyzed to ensure we are contacting all participants with actionable variants as this list evolves.
“We believe that this program exemplifies one way in which the Biobank can positively impact participants’ health” said Scott T. Weiss MD, Principal Investigator of the Biobank and Head of Personalized Medicine at Partners HealthCare.
The Biobank is funded to analyze DNA, through a process called genotyping, for 50,000 of its participants. Altogether, only about 500 (1%) of these people are expected to have a genetic mutation from this research study could be medically actionable. The Biobank will return research results to these 500 participants on an ongoing basis for the next few years.
Biobank staff will send letters and make phone calls to schedule a free consultation with a Genetic Counselor. This is a research result that needs to be repeated in a certified clinical laboratory to confirm that it is a medically actionable result.
The Genetic Counselor is a resource to help participants decide whether to get the research result validated in a clinical laboratory. The decision to pursue clinical validation and receive the result is up to each participant. The Biobank will cover the cost of the clinical test to validate the result, if done in the clinical laboratory affiliated with the Biobank. The consultation with a medical geneticist to learn and discuss the result of this clinical test will be billed per standard clinical processes.
The Biobank is a research program and does not replace clinical care. The vast majority of Biobank participants will never be contacted with research results. This does not mean a Biobank participant doesn’t have or won’t develop an important health problem.
The return of research results program is in its early stages and will likely evolve with feedback from researchers and participants alike. Already, we have heard from some participants that they would like all of their data to be returned, and not just the medically actionable variants. We have started conversations with our Institutional Review Board and with our Return of Research Results Task Force to understand the feasibility and ethics of such a program.
Your opinion matters and if you have any thoughts on the return of results program please contact us by email (firstname.lastname@example.org) or by phone (617-525-6700).
Additional Detail on How We Return Research Results
The steps in our procedure for returning research results are described below. Key points about this procedure are:
• At any point in time, a Biobank participant may decide to opt-out of the process and not obtain the research result.
• Biobank results are not automatically placed in a participant’s clinical record. This is only done once the participant has agreed to have the certified clinical laboratory testing.
• The Biobank will cover the cost of clinical test at the clinical laboratory that is affiliated with the Partners Biobank.
• Consultation and counseling with a medical geneticist is billed to the participant and/or the participant’s insurance per standard clinical processes.
• Once a genetic result is placed in the clinical record, then it is possible that an insurance company could obtain the clinical record and this could impact access to certain types of insurance such as life, disability, and long-term care insurance. Genetic results do not have an impact on health insurance.
First step: Analyze Biobank participants’ DNA.
• The Biobank is genotyping the blood samples of 50,000 of the Biobank’s participants using research methods. Genotyping is the process of looking for specific variants, or mutations, in someone’s DNA.
Second step: Notify participants
• If the Biobank finds a research result that is actionable, we will notify the participant first by letter and follow-up by phone and email.
• We will send up to three letters and three voicemails before we stop trying to contact each participant. We will also send email for those participants who provided an email address to the Biobank.
Third Step: Speak with the Genetic Counselor
• During a phone, letter, or email conversation, we will schedule a phone appointment for the participant to speak with a Genetic Counselor. The Genetic Counselor will also directly call the Biobank participant on the phone.
• During the appointment, the Genetic Counselor provides information about general category of result and helps the participant make the decision about whether they want to pursue clinical validation.
Fourth Step: Validate research result in a clinical laboratory
• If the participant chooses, they move forward with clinical validation to learn the specific result.
Fifth Step: Communication of clinically validated result
• Following the clinical validation test, the Genetic Counselor provides the participant with the result and refers them to a medical geneticist and/or their primary care physician at the participant’s request. This clinical consultation with a medical geneticist to learn and discuss the result of this clinical test will be billed to the participant and/or the participant’s insurer per standard clinical processes.
List of Research Results that are being Returned and Confirmed by Clinical Validation
This list was adapted from the American College of Medical Genetics and Genomics (ACMG) list of medically actionable genes. This list is regularly updated.
Hereditary Breast and Ovarian Cancer
An increased risk for the development of breast, ovarian, prostate and other cancers.
A rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.
A syndrome that causes the development of noncancerous growths, called hamatomatous polyps, in the gastrointestinal tract (stomach and intestines).
A disorder characterized by an increased risk of many types of cancers, particularly colon cancer.
Familial Adenomatous Polyposis
A syndrome marked by an increased risk for the development of colon cancer.
MYH-Associated Polyposis; Adenomas, multiple colorectal, FAP type 2; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
A disorder characterized by an increased risk of colon cancer.
A disorder characterized by the development of noncancerous (benign) growths, specifically in the gastrointestinal tract, before the age of twenty.
Von Hippel Lindau Syndrome
A disorder characterized by the formation of tumors and cysts in many parts of the body, including the brain, spinal cord, and retina.
Multiple Endocrine Neoplasia Type 1
A syndrome associated with tumors of the endocrine (hormone-producing) glands.
Mulitple Endocrine Neoplasia Type 2
A syndrome associated with a high risk of developing thyroid cancer and other tumors of the endocrine glands.
Familial Medullary Thyroid Cancer
A syndrome associated with an increased risk of developing thyroid cancer.
PTEN Hamartoma Tumor Syndrome
A disorder that causes a high risk for the development of benign and malignant tumors of the thyroid, breast, and uterus.
An eye cancer that begins in the back of the eye (retina) in children.
Hereditary Paraganglioma- Pheochromcytoma Syndrome
Syndromes characterized by the growth of paragangliomas, which are tumors that come from neuroendocrine tissues. The paragangliomas develop in the skull base and neck.
Tuberous Sclerosis Complex
A multisystem disorder characterized by the growth of noncancerous (benign) tumors in many parts of the body, most commonly skin, brain, and kidneys.
WT1- related Wilms tumor
Most common kidney tumor that is developed in childhood, and can often leads to kidney cancer.
Neurofibromatosis type 2
A disorder most commonly associated with noncancerous tumors in the nervous system. These growths develop along the nerve that carries information from the inner ear to the brain.
Ehlers-Danlos Syndrome- vascular type
Disorders that affect the connective tissues that support the skin, bones, blood vessels, and many other organs and tissues. Most commonly affects the joints and skin.
Marfan Syndrome, Loeys-Dietz Syndromes, and Familial Thoracic Aortic Aneurysms and Dissections
Disorders characterized by the enlargement of the aorta which increases risk of aneurysm.
Hypertrophic cardiomyopathy, Dilated cardiomyopathy
An increased risk of heart disease that can cause sudden cardiac arrest young, seemingly healthy individuals.
Catecholaminergic polymorphic ventricular tracycardia
A condition characterized by abnormal heart rhythm (arrhythmia).
Arrythmogenic right ventricular cadriomyopathy
An increased risk of heart disease that appears in adulthood, can cause sudden death during strenuous exercise.
Romano-Ward Long QT Syndromes Types 1,2, and 3, Brugada Syndrome
Condition associated with irregular heartbeats that can cause fainting, seizures, or sudden death.
A disorder that causes too much copper to accumulate in the organs, particularly the liver, brain, and eyes.
Orinthine transcarbamylase deficiency
A disorder that causes ammonia to accumulate in the blood. This can cause developmental delay, intellectual disability, and liver damage.
Malignant hyperthermia susceptibility
A rare life-threatening condition that is usually triggered by exposure to certain drugs used for general anesthesia
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