INFORMED CONSENT FOR THE STUDY OF HEREDITARY
BREAST AND OVARIAN CANCER
Personal Data
Full Name
Sample Code
Date of Birth
Reason for medical consultation
Report Recipient Data
Doctor’s e-mail
Name of the Doctor / Practitioner
Hospital – Health Clinic - Laboratory
Unit - Service
Telephone
Data obtained for this study is confidential and has to be treated under strict privacy rules
Information regarding the disease and its detection method
Genetic diagnosis and counseling are procedures used to identify a hereditary predisposition to
cancer before it appears and, in the event the genetic diagnosis is confirmed, to intervene at an early
stage before the disease develops or to diagnose it at a curable stage. The process begins when a
qualified professional initially collects the personal and familial history (family tree) and assesses the
risk of developing cancer. Based on the collected data, genetic counseling will be offered and the
individual risk will be discussed with the patient, together with the possibility of carrying out genetic
tests if deemed appropriate.
The genes responsible for high susceptibility to breast and ovarian cancer (BRCA1 and BRCA2) are
transmitted by autosomal dominance with variable penetrance. Patients carrying these genes present
an increased risk of developing breast and ovarian cancer, prostate cancer (BRCA1) and other types
of cancer (BRCA2). For this reason, a genetic analysis of germ line mutations or the loss of genetic
material in the BRCA1/BRCA2 genes is recommended when studying hereditary breast and ovarian
cancer, as it allows:
1. Classification of the patient as being HIGH RISK.
2. Identification of possible male and female carriers of this mutation.
3. Determination of the risk to develop cancer associated with mutations in the BRCA1 and
BRCA2 genes.
This risk varies depending on the mutation and has been shown to vary within the same family. The
results of these tests enable an estimation of the patient’s individual risk, and the identification of
carriers in risk families. A negative result from these studies does not exclude hereditary cancer
associated with numeric and/or structural alterations in other genes that are not analyzed with
OncoNIM® SeqBRCA1/2 or with OncoNIM® Familiar Cancer.
NIMGenetics is a Genetics Diagnosis center authorized by the Health and Consumer Department for the Community of Madrid, being duly registered under Nº CS10673
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The test is carried out on the basis of extracted and purified deoxyribonucleic acid (DNA) from the
sample received, usually from peripheral blood. Subsequently, the entire coding sequences of the
BRCA1 and BRCA2 genes are identified (those sequences which are translated into proteins)
through Next Generation Sequencing technology. The sequences obtained are analyzed through a
bioinformatics process that compares them with standard sequences of the same genes included in
existing databases. On the basis of the most updated and scientific medical knowledge, any changes
in the patient’s DNA sequence that have a clear relevance will be identified; in addition, changes in
the DNA sequence with no clear clinical significance (known as variants of uncertain significance) but
that are not considered polymorphic changes (i.e. the ones present in the healthy population) will also
be identified. Finally, predictive bioinformatics studies will be carried out on the variants of uncertain
significance.
If the sequencing results are negative, a study of large deletions will be performed in genes
associated with the development of familial breast and ovarian cancer. This study will be carried out
with the arrayCGH OncoNIM® Familial Cancer platform, enabling the detection of the presence of
intragenic deletions in the BRCA1 and BRCA2 genes as well as in less frequent genes (e.g. TP53,
PALB2, CHEK2, CDH1 and PTEN) in which deletions could also be associated with familiar breast
and ovarian cancer risk.
LIMITATIONS OF THE HEREDITARY BREAST AND
OVARIAN CANCER STUDIES
1. Limitations of the OncoNIM®SeqBRCA1/2 test
Next Generation Sequencing of BRCA1 and BRCA2 genes does not allow the detection of large
deletions, rearrangements or mutations affecting the intronic regions of the mentioned genes.
Moreover, the mutations caused by insertion/deletion of 10 nucleotides or more cannot be detected
through the used methodology.
This study does not exclude the presence of nucleotide variants localized in the hybridization region
of the oligonucleotides used. These situations (which are not predictable at the pre-analytic phase)
may complicate or prevent the collection of an appropriate number of amplified sequences, reducing
the possibility of generating a reliable report for this genomic region.
2. Limitations of the OncoNIM®Familial Cancer test
The analysis of large deletions through the use of the arrayCGH OncoNIM®Familial Cancer does not
allow the detection of disorders caused by uniparental dysomies, balanced genomic rearrangements
or the presence of mosaicisms below approx. 30% of the cell population.
Moreover, a negative result does not necessarily exclude an intra-genetic deletion smaller than the
average resolution limits of the technique, which is of at least 1 kilo base along the studied genes.
NIMGenetics is a Genetics Diagnosis center authorized by the Health and Consumer Department for the Community of Madrid, being duly registered under Nº CS10673
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PATIENT’S INFORMED CONSENT
I understand the information previously provided to me concerning the Hereditary Breast and Ovarian
Cancer study with OncoNIM®Seq BRCA1/BRCA2 and OncoNIM® Familial Cancer, which I have read
(or has been read to me). I have been given the chance to have my questions about this test
answered. I understand the indication, purpose, characteristics and potential risks of this test. By
signing this form I accept, on my behalf or as legal guardian, to participate freely in this test.
My d oc tor , Dr .
to all my questions concerning the test .
, has answered
I understand the limitations of the OncoNIM®Seq BRCA1/BRCA2 and OncoNIM® Familial Cancer
test.
I declare that the personal and medical information provided is true and accurate.
I understand that the report will be available within a period of 90 days from the time the laboratory
receives the sample and performs its quality control validation. The result of the genetic test will be
sent to the requesting doctor.
I understand that I may be requested to supply a new blood sample in order to repeat the test, due to:
insufficient material or, in those cases where the complexity of the diagnosis makes it necessary, to
clarify the results.
I give my consent to NIMGenetics’ use of the information obtained from the final results of
this analysis, especially if m utations or genomic variants are identified. I understand and
accept that the clinical team may contact me to request additional clinical data.
I give my consent to the use of the clinical data obtained from the test by
m y d o c t o r a n d / o r t h e NIMGenetics laboratory for audit purposes, quality and research studies,
bearing in mind that this information will remain anonymous, unidentifiable, and that all my personal
information, or that of my child, will be eliminated from any report or publication.
And to this end, I give my consent for the performance of the genetic tests for the OncoNIM®Seq
BRCA1/BRCA2 and OncoNIM® Familial Cancer test.
PATIENT / Legal Guardian:
PRACTITIONER / PHYSICIAN:
Full Name:
Hospital / Health Center / Medical Consultation:
Date:
Date:
Signature:
Signature:
NIMGenetics is a Genetics Diagnosis center authorized by the Health and Consumer Department for the Community of Madrid, being duly registered under Nº CS10673
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INSTRUCTIONS TO CARRY OUT THE TEST
1.
Fill in the INFORMED
CONSENT Form
Personal Data:
The request must include the patient’s personal data and the reason for the medical
consultation. We recommend the inclusion of the family tree and a short medical history.
The sample code will be assigned by NIMGenetics.
Data for the Report delivery:
Specify the full name and email address of the physician the report should be sent to.
This document must be signed by the patient or legal guardian.
The physician will answer any questions and will act as a witness.
2.
Fill in the INVOICING DETAILS AND PAYMENT TERMS.
This information is to be completed in the section below. An invoice will be sent to you
indicating the bank account number to which the transfer should be made.
3.
4.
Sample shipping conditions:
In EDTA tube containing 10-15 ml of peripheral blood. Send at room temperature within a
maximum of 6 hours from sample collection. If the shipment is to be made on the following
day, please keep the sample refrigerated, ship on ice (40C) and always within a maximum of 16
hours from collection. DO NOT FREEZE.
For special cases and for other types of samples, please contact the laboratory to determine
the optimum shipping conditions.
Send the sample together with the informed consent, the invoicing data and method of
payment.
The report will be sent to the doctor/practitioner specified in the Informed consent.
INVOICING DETAILS AND PAYMENT TERMS
5.
To be sent together with the sample:
Bank:
Tax ID Number:
Address:
Authorized Person:
Authorized Signature:
Telephone:
Email:
Method of Payment:
Account deposit/ bank transfer: please specify the invoice number with your payment.
NIMGenetics is a Genetics Diagnosis center authorized by the Health and Consumer Department for the Community of Madrid, being duly registered under Nº CS10673
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Privacy Policy
In compliance with Law 41/2002 on the Regulation of Patients’ Rights and Requirements regarding
Clinical Information and Documentation and in compliance with Organic Law 15/1999 of December
13, on Personal Data Protection, the petitioner must have the informed consent signed by the patient
in order to carry out the requested diagnostic tests and for data processing purposes. Hence, to
comply with said information requirement, we hereby inform patients that all the data collected in the
present document will be included in an automated and confidential file, duly registered with the
Spanish Data Protection Agency, under NIMGenetics, S.L. ownership, for the purpose of managing
the diagnostic study indicated therein and of which the patient may, at any time, exercise his/her
rights of access, rectification, cancellation and opposition.
NIMGenetics is a Genetics Diagnosis center authorized by the Health and Consumer Department for the Community of Madrid, being duly registered under Nº CS10673
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