for Genetic Research
outline is intended to help the investigator prepare a
submission for Genetic Research. If your study
conforms to all of the points listed below, then you meet
the guideline requirements for Genetic Research. If your
study does not conform to this outline, please consult
with the PHRC staff office (617-424-4100) regarding areas
Genetic Research is defined as research conducted by investigators
solely for the purpose of generating scientific knowledge
about genes and/or the genetic basis of disease. This
research is not intended to provide subjects or their
families with specific information about their genetic
status or health, and at no time should this information
be divulged by the investigator, without following the
Research Results &
that this study is for research purposes only
and no individual results will be given back to
study participants. This will include information
from final results of the study, interim results
of the study and incidental findings.
that research results will never go into the medical
that confidentiality will be preserved to the
fullest extent by the research team.
that if identifiers are to be maintained, they
will be kept in a separate, secure locked location.
Describe the security system on the computer,
if the data is to be entered into a database.
that samples will be coded in order to remain
for future contact (re-contact);
Use of Sample
(if applicable) that the samples collected for
this study may yield information that could be
an option to be re-contacted if research information
becomes applicable to clinical diagnosis/treatment.
State that such contact could, if desired, lead
to referral involving outside parties (e.g., a
that additional consent will be necessary to transfer
research data to the clinical setting. This consent
must be submitted for review and approval.
that the investigators are not obligated to keep
addresses/contact information in order to re-contact
secondary use is using a collected sample
for any reasons other than the intended and documented
third party is any person outside the immediate
secondary and third party uses of biological samples
are restricted to anonymized or anonymous
samples. This means the sample cannot be
identified or linked to an individual by the ‘secondary-use-researcher’
or the ‘third party’. Limited, non-identifying,
demographic information may be retained on the
secondary research must follow the Genetic Research
Development for Genetic Research Studies
the Guidelines for Genetic Research before using this
to develop your protocol)
Purpose of Study or Activity
a concise statement about the background, nature and
scientific justification for the proposed study or
activity. Enough information must be given for the
scientific design to be made clear to those who review
the proposal. Cite appropriate references.
Protocol for Study or Plan of Activity
source of patients and controls, recruiting procedures
and discuss any financial compensation or remuneration
planned for subjects. Include copies of recruitment
letters to be used in the study. Describe inclusion
and exclusion criteria for study participation. Describe
the actual research studies or activities to be carried
out that will involve the use of samples donated by
genetic studies involving acquisition of biological samples:
the procedures to be used to obtain samples. Describe
the type, amount and/or size of sample(s) to be taken.
Explain whether or not identifiers will be maintained
and how patient confidentiality will be assured. Describe
how researchers will deal with sample/storage failure.
Indicate if recontact will/might be made for additional
samples. Indicate if procedures are in place for the
participant to request their sample/cell line be destroyed
or stripped of identifiers. Indicate how samples will
be coded. State (if applicable) that samples may be
used for research purposes other than the specified
disorder, but will remain coded and anonymous to the
research. Characterize what these other uses may be.
State (if applicable) that samples may be shared with
third parties but will be sent out coded and remain
completely anonymous to the third party. The MGH will
not allow an identified sample to be shared with third
that this study is for research purposes only and
no individual results will be given back to study
participants. This will include information from final
results of the study, interim results, and incidental
findings. State that record of participation (including
a consent form and research results) will
never go into the medical record.
what you would like to do if clinically relevant information
might eventually become available from your research.
Do you need procedures in place to effectively communicate
to the population of participants that relevant genetic
information may be available? Any communication must
not be informative regarding specific results.
Interpretation of Data
clearly how the proposal will answer the hypothesis
being tested. Include statistical considerations related
to the proposed sample size, data interpretation,
Risks, Discomforts, and Potential Benefits
the potential risks and discomforts as well as potential
benefits that would attend participation in the study.
Bear in mind that the study should be designed to
achieve its goal with the least possible risk to subjects.
Do not understate the risks or overstate the potential
benefits. There should be no disclosure of study results
to participating subjects and therefore no significant
non-medical risks associated, if care is given
to issues of confidentiality.
the ways in which the rights and welfare of the subjects
will be protected. State that confidentiality will
be preserved to the fullest extent by the research
team, however that this cannot be guaranteed. State
that research study participation information including
research results will not be given to family members,
insurance companies, employers or other third parties
without written permission of the subject and IRB
approval. Any shared samples must be anonymized to
samples are to be collected using "mailers",
describe the procedures in place to avoid unintentional
disclosure as can occur if an insurance company is
billed for the phlebotomy.
Informed Consent and Documentation of Informed Consent
the manner in which informed consent will be obtained
from subjects who will participate in the proposed
studies or activities. Provide a copy of your written
informed consent document for SHS approval. Include
in both your protocol submission and informed consent
document the following elements:
State that informed consent is for genetic
research purposes and will not appear in the medical
State that specific information resulting from genetic
research will not be available to participants and
Include information about the DNA sample to be taken,
including whether or not cell lines will be established.
Detail how the cell line/DNA sample will be used.
Consider offering the participant the option of
allowing samples to be shared or not.
Explain if samples will be shared with other investigators
(third parties). Indicate that shared samples will
be anonymous to the other investigators. Consider
offering the participant the option of allowing
samples to be shared or not.
Indicate if samples will be used for secondary uses.
In other words, research other than for what it
was collected. Secondary uses may only be done on
anonymized or anonymous samples.
If you have a Newsletter or other means to communicate
general information regarding research results (e.g.,
new gene mutation discovered in X disorder), offer
participants the option of receiving general information.
No information should be directed specifically to,
or communicated directly, to a participant.
Two copies of the informed consent should exist.
An original copy should be filed in the research
files and a second copy for the participant.