Use of Public Human Genetic Variant Databases To Support Clinical Validity for Genetic and Genomic-Based In Vitro Diagnostics; Guidance for Stakeholders and Food and Drug Administration Staff; Availability, 16110-16112 [2018-07686]
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Federal Register / Vol. 83, No. 72 / Friday, April 13, 2018 / Notices
TABLE 1—ESTIMATED REPORTING BURDEN 1
21 CFR section
Number of
respondents
Number of
responses per
respondent
Total annual
responses
Average
burden per
response
Total hours
Notifications required under §§ 310.306 (unapproved
drugs), 314.81(b)(3)(iii) (products approved under an
NDA or ANDA), and 600.82 (products approved under a
BLA) ..................................................................................
75
4.7
352.5
2
705
1 There
are no capital costs or operating and maintenance costs associated with this collection of information.
The estimated burden for this
information collection has changed
since the previous OMB approval. The
current burden is based on the number
of actual new notifications received
including notifications that were
counted previously under the OMB
approval for the interim final rule
entitled ‘‘Permanent Discontinuance or
Interruption in Manufacturing of Certain
Drug or Biological Products’’ (80 FR
38915, July 8, 2015) (OMB control
number 0910–0699).
Dated: April 9, 2018.
Leslie Kux,
Associate Commissioner for Policy.
[FR Doc. 2018–07684 Filed 4–12–18; 8:45 am]
BILLING CODE 4164–01–P
DEPARTMENT OF HEALTH AND
HUMAN SERVICES
Food and Drug Administration
[Docket No. FDA–2016–D–1233]
Use of Public Human Genetic Variant
Databases To Support Clinical Validity
for Genetic and Genomic-Based In
Vitro Diagnostics; Guidance for
Stakeholders and Food and Drug
Administration Staff; Availability
AGENCY:
Food and Drug Administration,
HHS.
ACTION:
Notice of availability.
The Food and Drug
Administration (FDA or Agency) is
announcing the availability of the final
guidance entitled ‘‘Use of Public Human
Genetic Variant Databases to Support
Clinical Validity for Genetic and
Genomic-Based In Vitro Diagnostics;
Guidance for Stakeholders and Food
and Drug Administration Staff.’’ This
guidance document describes how
publicly accessible databases of human
genetic variants can serve as sources of
valid scientific evidence to support the
clinical validity of genotype-phenotype
relationships in FDA’s regulatory review
of genetic and genomic-based tests. This
guidance further outlines the process by
which administrators of genetic variant
databases could voluntarily apply to
daltland on DSKBBV9HB2PROD with NOTICES
SUMMARY:
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17:41 Apr 12, 2018
Jkt 244001
FDA for recognition, and how FDA
would review such applications and
periodically reevaluate recognized
databases.
DATES: The announcement of the
guidance is published in the Federal
Register on April 13, 2018.
ADDRESSES: You may submit either
electronic or written comments on
Agency guidances at any time as
follows:
Electronic Submissions
Submit electronic comments in the
following way:
• Federal eRulemaking Portal:
https://www.regulations.gov. Follow the
instructions for submitting comments.
Comments submitted electronically,
including attachments, to https://
www.regulations.gov will be posted to
the docket unchanged. Because your
comment will be made public, you are
solely responsible for ensuring that your
comment does not include any
confidential information that you or a
third party may not wish to be posted,
such as medical information, your or
anyone else’s Social Security number, or
confidential business information, such
as a manufacturing process. Please note
that if you include your name, contact
information, or other information that
identifies you in the body of your
comments, that information will be
posted on https://www.regulations.gov.
• If you want to submit a comment
with confidential information that you
do not wish to be made available to the
public, submit the comment as a
written/paper submission and in the
manner detailed (see ‘‘Written/Paper
Submissions’’ and ‘‘Instructions’’).
Written/Paper Submissions
Submit written/paper submissions as
follows:
• Mail/Hand delivery/Courier (for
written/paper submissions): Dockets
Management Staff (HFA–305), Food and
Drug Administration, 5630 Fishers
Lane, Rm. 1061, Rockville, MD 20852.
• For written/paper comments
submitted to the Dockets Management
Staff, FDA will post your comment, as
well as any attachments, except for
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information submitted, marked and
identified, as confidential, if submitted
as detailed in ‘‘Instructions.’’
Instructions: All submissions received
must include the Docket No. FDA–
2016–D–1233 for ‘‘Use of Public Human
Genetic Variant Databases to Support
Clinical Validity for Genetic and
Genomic-Based In Vitro Diagnostics;
Guidance for Stakeholders and Food
and Drug Administration Staff.’’
Received comments will be placed in
the docket and, except for those
submitted as ‘‘Confidential
Submissions,’’ publicly viewable at
https://www.regulations.gov or at the
Dockets Management Staff office
between 9 a.m. and 4 p.m., Monday
through Friday.
• Confidential Submissions—To
submit a comment with confidential
information that you do not wish to be
made publicly available, submit your
comments only as a written/paper
submission. You should submit two
copies total. One copy will include the
information you claim to be confidential
with a heading or cover note that states
‘‘THIS DOCUMENT CONTAINS
CONFIDENTIAL INFORMATION.’’ The
Agency will review this copy, including
the claimed confidential information, in
its consideration of comments. The
second copy, which will have the
claimed confidential information
redacted/blacked out, will be available
for public viewing and posted on
https://www.regulations.gov. Submit
both copies to the Dockets Management
Staff. If you do not wish your name and
contact information to be made publicly
available, you can provide this
information on the cover sheet and not
in the body of your comments and you
must identify this information as
‘‘confidential.’’ Any information marked
as ‘‘confidential’’ will not be disclosed
except in accordance with 21 CFR 10.20
and other applicable disclosure law. For
more information about FDA’s posting
of comments to public dockets, see 80
FR 56469, September 18, 2015, or access
the information at: https://www.gpo.gov/
fdsys/pkg/FR-2015-09-18/pdf/201523389.pdf.
E:\FR\FM\13APN1.SGM
13APN1
Federal Register / Vol. 83, No. 72 / Friday, April 13, 2018 / Notices
daltland on DSKBBV9HB2PROD with NOTICES
Docket: For access to the docket to
read background documents or the
electronic and written/paper comments
received, go to https://
www.regulations.gov and insert the
docket number, found in brackets in the
heading of this document, into the
‘‘Search’’ box and follow the prompts
and/or go to the Dockets Management
Staff, 5630 Fishers Lane, Rm. 1061,
Rockville, MD 20852.
You may submit comments on any
guidance at any time (see 21 CFR
10.115(g)(5)).
An electronic copy of the guidance
document is available for download
from the internet. See the
SUPPLEMENTARY INFORMATION section for
information on electronic access to the
guidance. Submit written requests for a
single hard copy of the guidance
document entitled ‘‘Use of Public
Human Genetic Variant Databases to
Support Clinical Validity for Genetic
and Genomic-Based In Vitro
Diagnostics; Guidance for Stakeholders
and Food and Drug Administration Staff
’’ to the Office of the Center Director,
Guidance and Policy Development,
Center for Devices and Radiological
Health, Food and Drug Administration,
10903 New Hampshire Ave., Bldg. 66,
Rm. 5431, Silver Spring, MD 20993–
0002, or the Office of Communication,
Outreach, and Development, Center for
Biologics Evaluation and Research,
Food and Drug Administration, 10903
New Hampshire Ave., Bldg. 71, Rm.
3128, Silver Spring, MD 20993–0002.
Send one self-addressed adhesive label
to assist that office in processing your
request.
FOR FURTHER INFORMATION CONTACT:
Laura Koontz, Center for Devices and
Radiological Health, Food and Drug
Administration, 10903 New Hampshire
Ave., Bldg. 66, Rm. 4553, Silver Spring,
MD 20993–0002, 301–796–7561,
OIRPMGroup@fda.hhs.gov; or Stephen
Ripley, Center for Biologics Evaluation
and Research, Food and Drug
Administration, 10903 New Hampshire
Ave., Bldg. 71, Rm. 7301, Silver Spring,
MD 20993–0002, 240–402–7911.
SUPPLEMENTARY INFORMATION:
I. Background
This guidance document describes
one part of FDA’s effort to create a
flexible regulatory approach to the
oversight of genetic and genomic-based
tests. FDA held three workshops on this
issue: ‘‘Use of Databases for Establishing
the Clinical Relevance of Human
Genetic Variants’’ on November 13,
2015, ‘‘Patient and Medical Professional
Perspectives on the Return of Genetic
Test Results’’ on March 2, 2016, and
VerDate Sep<11>2014
17:41 Apr 12, 2018
Jkt 244001
‘‘Adapting Regulatory Oversight of Next
Generation Sequencing-Based Tests’’ on
September 23, 2016. The goal of this
effort is to help ensure patients receive
accurate and meaningful results, while
promoting innovation in test
development. This guidance document
describes how publicly accessible
databases of human genetic variants can
serve as sources of valid scientific
evidence to support the clinical validity
of genotype-phenotype relationships in
FDA’s regulatory review of genetic and
genomic-based tests. FDA is also issuing
a guidance entitled ‘‘Considerations for
Design, Development, and Analytical
Validation of Next Generation
Sequencing (NGS)-Based In Vitro
Diagnostics (IVDs) Intended to Aid in
the Diagnosis of Suspected Germline
Diseases—Guidance for Stakeholders
and Food and Drug Administration
Staff,’’ which is being released
concurrently elsewhere in this issue of
the Federal Register.
NGS can enable rapid, broad, and
deep sequencing of a portion of a gene,
entire exome(s), or a whole genome and
may be used clinically for a variety of
diagnostic purposes, including risk
prediction, diagnosis, and treatment
selection for a disease or condition. The
rapid adoption of NGS-based tests in
both research and clinical practice is
leading to identification of an increasing
number of genetic variants (e.g.,
pathogenic, benign, and of unknown
significance), including rare variants
that may be unique to a single
individual or family. This guidance
document describes FDA’s
considerations in determining whether a
genetic variant database is a source of
valid scientific evidence that could
support the clinical validity of genetic
and genomic based tests. This guidance
further outlines the process by which
administrators of genetic variant
databases could voluntarily apply to
FDA for recognition, and how FDA
would review such applications and
periodically reevaluate recognized
databases. A draft guidance was
announced in the Federal Register on
July 8, 2016 (81 FR 44611) and made
available for public comment. The
comment period closed on October 6,
2016. FDA reviewed and considered all
public comments received and revised
the guidance as appropriate.
II. Significance of Guidance
This guidance is being issued
consistent with FDA’s good guidance
practices regulation (21 CFR 10.115).
The guidance represents the current
thinking of FDA on the ‘‘Use of Public
Human Genetic Variant Databases to
Support Clinical Validity for Genetic
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16111
and Genomic-Based In Vitro
Diagnostics.’’ It does not establish any
rights for any person and is not binding
on FDA or the public. You can use an
alternative approach if it satisfies the
requirements of the applicable statutes
and regulations. This guidance is not
subject to Executive Order 12866.
III. Electronic Access
Persons interested in obtaining a copy
of the guidance may do so by
downloading an electronic copy from
the internet. A search capability for all
Center for Devices and Radiological
Health guidance documents is available
at https://www.fda.gov/MedicalDevices/
DeviceRegulationandGuidance/
GuidanceDocuments/default.htm. This
guidance document is also available at
https://www.fda.gov/
BiologicsBloodVaccines/
GuidanceCompliance
RegulatoryInformation/default.htm or
https://www.regulations.gov. Persons
unable to download an electronic copy
of ‘‘Use of Public Human Genetic
Variant Databases to Support Clinical
Validity for Genetic and Genomic-Based
In Vitro Diagnostics; Guidance for
Stakeholders and Food and Drug
Administration Staff’’ may send an
email request to CDRH-Guidance@
fda.hhs.gov to receive an electronic
copy of the document. Please use the
document number 16008 to identify the
guidance you are requesting.
IV. Paperwork Reduction Act of 1995
This guidance refers to previously
approved collections of information.
These collections of information are
subject to review by the Office of
Management and Budget (OMB) under
the Paperwork Reduction Act of 1995
(44 U.S.C. 3501–3520). The collections
of information in the guidance
document ‘‘Use of Public Human
Genetic Variant Databases to Support
Clinical Validity for Genetic and
Genomic-Based In Vitro Diagnostics;
Guidance for Stakeholders and Food
and Drug Administration Staff’’ have
been approved under OMB control
number 0910–0850. The collections of
information in the guidance document
‘‘Requests for Feedback on Medical
Device Submissions: The PreSubmission Program and Meetings with
Food and Drug Administration Staff;
Guidance for Industry and Food and
Drug Administration Staff’’ have been
approved under OMB control number
0910–0756. The collections of
information regarding premarket
submissions have been approved as
follows: The collections of information
in 21 CFR part 807, subpart E, have been
approved under OMB control number
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Federal Register / Vol. 83, No. 72 / Friday, April 13, 2018 / Notices
0910–0120 and the collections of
information in 21 CFR part 814,
subparts A through E, have been
approved under OMB control number
0910–0231.
DEPARTMENT OF HEALTH AND
HUMAN SERVICES
National Institutes of Health
National Institute on Minority Health
and Health Disparities; Notice of
Closed Meeting
Dated: April 9, 2018.
Leslie Kux,
Associate Commissioner for Policy.
[FR Doc. 2018–07686 Filed 4–12–18; 8:45 am]
BILLING CODE 4164–01–P
DEPARTMENT OF HEALTH AND
HUMAN SERVICES
National Institutes of Health
National Center for Advancing
Translational Sciences; Notice of
Closed Meeting
daltland on DSKBBV9HB2PROD with NOTICES
Pursuant to section 10(d) of the
Federal Advisory Committee Act, as
amended, notice is hereby given of the
following meeting.
The meeting will be closed to the
public in accordance with the
provisions set forth in sections
552b(c)(4) and 552b(c)(6), Title 5 U.S.C.,
as amended. The grant applications and
the discussions could disclose
confidential trade secrets or commercial
property such as patentable material,
and personal information concerning
individuals associated with the grant
applications, the disclosure of which
would constitute a clearly unwarranted
invasion of personal privacy.
Name of Committee: National Center for
Advancing Translational Sciences Special
Emphasis Panel; New Therapeutic Uses.
Date: June 6, 2018.
Time: 8:00 a.m. to 5:00 p.m.
Agenda: To review and evaluate grant
applications.
Place: National Institutes of Health, One
Democracy Plaza, Room 1066, 6701
Democracy Boulevard, Bethesda, MD 20892
(Virtual Meeting).
Contact Person: Barbara J. Nelson, Ph.D.,
Scientific Review Officer, Office of Scientific
Review, National Center for Advancing
Translational Sciences (NCATS), National
Institutes of Health 6701 Democracy Blvd.,
Democracy 1, Room 1080, Bethesda, MD
20892–4874, 301–435–0806, nelsonbj@
mail.nih.gov.
(Catalogue of Federal Domestic Assistance
Program Nos. 93.859, Pharmacology,
Physiology, and Biological Chemistry
Research; 93.350, B–Cooperative Agreements;
93.859, Biomedical Research and Research
Training, National Institutes of Health, HHS)
Dated: April 10, 2018.
David D. Clary,
Program Analyst, Office of Federal Advisory
Committee Policy.
[FR Doc. 2018–07753 Filed 4–12–18; 8:45 am]
BILLING CODE 4140–01–P
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Pursuant to section 10(d) of the
Federal Advisory Committee Act, as
amended, notice is hereby given of the
following meeting.
The meeting will be closed to the
public in accordance with the
provisions set forth in sections
552b(c)(4) and 552b(c)(6), Title 5 U.S.C.,
as amended. The grant applications and
the discussions could disclose
confidential trade secrets or commercial
property such as patentable materials,
and personal information concerning
individuals associated with the grant
applications, the disclosure of which
would constitute a clearly unwarranted
invasion of personal privacy.
Name of Committee: National Institute on
Minority Health and Health Disparities
Special Emphasis Panel; Prevention and
Treatment Research to Address HIV/AIDS
Disparities in Woman in the U.S.
Date: May 24, 2018.
Time: 12:30 p.m. to 5:30 p.m.
Agenda: To review and evaluate grant
applications.
Place: Gateway Building, 7201 Wisconsin
Ave., Suite 533, Bethesda, MD 20814
(Telephone Conference Call).
Contact Person: Maryline Laude-Sharp,
Ph.D., Scientific Review Officer, National
Institute on Minority Health and Health
Disparities, National Institutes of Health,
7201 Wisconsin Ave., Bethesda, MD 20814,
(301) 451–9536, mlaudesharp@nih.gov.
Dated: April 10, 2018.
David D. Clary,
Program Analyst, Office of Federal Advisory
Committee Policy.
[FR Doc. 2018–07755 Filed 4–12–18; 8:45 am]
BILLING CODE 4140–01–P
DEPARTMENT OF HEALTH AND
HUMAN SERVICES
National Institutes of Health
Office of the Director, National
Institutes of Health; Notice of Meeting
Pursuant to section 10(d) of the
Federal Advisory Committee Act, as
amended, notice is hereby given of the
meeting of the Council of Councils.
The meeting will be open to the
public as indicated below, with
attendance limited to space available.
Individuals who plan to attend and
need special assistance, such as sign
language interpretation or other
reasonable accommodations, should
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notify the Contact Person listed below
in advance of the meeting. The open
session will be videocast and can be
accessed from the NIH Videocasting and
Podcasting website (https://videocast.
nih.gov).
A portion of the meeting will be
closed to the public in accordance with
the provisions set forth in sections
552b(c)(4), and 552b(c)(6), Title 5
U.S.C., as amended. The grant
applications and the discussions could
disclose confidential trade secrets or
commercial property such as patentable
material, and personal information
concerning individuals associated with
the grant applications, the disclosure of
which would constitute a clearly
unwarranted invasion of personal
privacy.
Name of Committee: Council of Councils.
Open: May 18, 2018.
Time: 8:15 a.m. to 11:30 a.m.
Agenda: Call to Order and Introductions;
Announcements and Updates; Evaluating the
‘‘Broadening Experiences in Scientific
Training (BEST)’’ Awards; NIDA Update;
Introduction to the Use of Non-Human
Primates (NHP) in Addiction Research; NHP
Models of Drug Addiction.
Place: National Institutes of Health, 9000
Rockville Pike, Building 31, C Wing, 6th
Floor, Conference Room 10, Bethesda, MD
20892.
Closed: May 18, 2018.
Time: 12:30 p.m. to 2:30 p.m.
Agenda: Review of Grant Applications.
Place: National Institutes of Health, 9000
Rockville Pike, Building 31, C Wing, 6th
Floor, Conference Room 10, Bethesda, MD
20892.
Open: May 18, 2018.
Time: 2:30 p.m. to 4:05 p.m.
Agenda: Division of Program Coordination,
Planning, and Strategic Initiatives (DPCPSI)
Program Presentations; Update from the
Office of Portfolio Analysis; Closing Remarks.
Place: National Institutes of Health, 9000
Rockville Pike, Building 31, C Wing, 6th
Floor, Conference Room 10, Bethesda, MD
20892.
Contact Person: Franziska Grieder, D.V.M.,
Ph.D., Executive Secretary, Director, Office of
Research Infrastructure Programs, Division of
Program Coordination, Planning, and
Strategic Initiatives, Office of the Director,
NIH, 6701 Democracy Boulevard, Room 948,
Bethesda, MD 20892, GriederF@mail.nih.gov,
301–435–0744.
Any interested person may file written
comments with the committee by forwarding
the statement to the Contact Person listed on
this notice. The statement should include the
name, address, telephone number and when
applicable, the business or professional
affiliation of the interested person.
In the interest of security, NIH has
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will be inspected before being allowed on
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E:\FR\FM\13APN1.SGM
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]]>Agencies
[Federal Register Volume 83, Number 72 (Friday, April 13, 2018)]
[Notices]
[Pages 16110-16112]
From the Federal Register Online via the Government Publishing Office [www.gpo.gov]
[FR Doc No: 2018-07686]
-----------------------------------------------------------------------
DEPARTMENT OF HEALTH AND HUMAN SERVICES
Food and Drug Administration
[Docket No. FDA-2016-D-1233]
Use of Public Human Genetic Variant Databases To Support Clinical
Validity for Genetic and Genomic-Based In Vitro Diagnostics; Guidance
for Stakeholders and Food and Drug Administration Staff; Availability
AGENCY: Food and Drug Administration, HHS.
ACTION: Notice of availability.
-----------------------------------------------------------------------
SUMMARY: The Food and Drug Administration (FDA or Agency) is announcing
the availability of the final guidance entitled ``Use of Public Human
Genetic Variant Databases to Support Clinical Validity for Genetic and
Genomic-Based In Vitro Diagnostics; Guidance for Stakeholders and Food
and Drug Administration Staff.'' This guidance document describes how
publicly accessible databases of human genetic variants can serve as
sources of valid scientific evidence to support the clinical validity
of genotype-phenotype relationships in FDA's regulatory review of
genetic and genomic-based tests. This guidance further outlines the
process by which administrators of genetic variant databases could
voluntarily apply to FDA for recognition, and how FDA would review such
applications and periodically reevaluate recognized databases.
DATES: The announcement of the guidance is published in the Federal
Register on April 13, 2018.
ADDRESSES: You may submit either electronic or written comments on
Agency guidances at any time as follows:
Electronic Submissions
Submit electronic comments in the following way:
Federal eRulemaking Portal: https://www.regulations.gov.
Follow the instructions for submitting comments. Comments submitted
electronically, including attachments, to https://www.regulations.gov
will be posted to the docket unchanged. Because your comment will be
made public, you are solely responsible for ensuring that your comment
does not include any confidential information that you or a third party
may not wish to be posted, such as medical information, your or anyone
else's Social Security number, or confidential business information,
such as a manufacturing process. Please note that if you include your
name, contact information, or other information that identifies you in
the body of your comments, that information will be posted on https://www.regulations.gov.
If you want to submit a comment with confidential
information that you do not wish to be made available to the public,
submit the comment as a written/paper submission and in the manner
detailed (see ``Written/Paper Submissions'' and ``Instructions'').
Written/Paper Submissions
Submit written/paper submissions as follows:
Mail/Hand delivery/Courier (for written/paper
submissions): Dockets Management Staff (HFA-305), Food and Drug
Administration, 5630 Fishers Lane, Rm. 1061, Rockville, MD 20852.
For written/paper comments submitted to the Dockets
Management Staff, FDA will post your comment, as well as any
attachments, except for information submitted, marked and identified,
as confidential, if submitted as detailed in ``Instructions.''
Instructions: All submissions received must include the Docket No.
FDA-2016-D-1233 for ``Use of Public Human Genetic Variant Databases to
Support Clinical Validity for Genetic and Genomic-Based In Vitro
Diagnostics; Guidance for Stakeholders and Food and Drug Administration
Staff.'' Received comments will be placed in the docket and, except for
those submitted as ``Confidential Submissions,'' publicly viewable at
https://www.regulations.gov or at the Dockets Management Staff office
between 9 a.m. and 4 p.m., Monday through Friday.
Confidential Submissions--To submit a comment with
confidential information that you do not wish to be made publicly
available, submit your comments only as a written/paper submission. You
should submit two copies total. One copy will include the information
you claim to be confidential with a heading or cover note that states
``THIS DOCUMENT CONTAINS CONFIDENTIAL INFORMATION.'' The Agency will
review this copy, including the claimed confidential information, in
its consideration of comments. The second copy, which will have the
claimed confidential information redacted/blacked out, will be
available for public viewing and posted on https://www.regulations.gov.
Submit both copies to the Dockets Management Staff. If you do not wish
your name and contact information to be made publicly available, you
can provide this information on the cover sheet and not in the body of
your comments and you must identify this information as
``confidential.'' Any information marked as ``confidential'' will not
be disclosed except in accordance with 21 CFR 10.20 and other
applicable disclosure law. For more information about FDA's posting of
comments to public dockets, see 80 FR 56469, September 18, 2015, or
access the information at: https://www.gpo.gov/fdsys/pkg/FR-2015-09-18/pdf/2015-23389.pdf.
[[Page 16111]]
Docket: For access to the docket to read background documents or
the electronic and written/paper comments received, go to https://www.regulations.gov and insert the docket number, found in brackets in
the heading of this document, into the ``Search'' box and follow the
prompts and/or go to the Dockets Management Staff, 5630 Fishers Lane,
Rm. 1061, Rockville, MD 20852.
You may submit comments on any guidance at any time (see 21 CFR
10.115(g)(5)).
An electronic copy of the guidance document is available for
download from the internet. See the SUPPLEMENTARY INFORMATION section
for information on electronic access to the guidance. Submit written
requests for a single hard copy of the guidance document entitled ``Use
of Public Human Genetic Variant Databases to Support Clinical Validity
for Genetic and Genomic-Based In Vitro Diagnostics; Guidance for
Stakeholders and Food and Drug Administration Staff '' to the Office of
the Center Director, Guidance and Policy Development, Center for
Devices and Radiological Health, Food and Drug Administration, 10903
New Hampshire Ave., Bldg. 66, Rm. 5431, Silver Spring, MD 20993-0002,
or the Office of Communication, Outreach, and Development, Center for
Biologics Evaluation and Research, Food and Drug Administration, 10903
New Hampshire Ave., Bldg. 71, Rm. 3128, Silver Spring, MD 20993-0002.
Send one self-addressed adhesive label to assist that office in
processing your request.
FOR FURTHER INFORMATION CONTACT: Laura Koontz, Center for Devices and
Radiological Health, Food and Drug Administration, 10903 New Hampshire
Ave., Bldg. 66, Rm. 4553, Silver Spring, MD 20993-0002, 301-796-7561,
[email protected]; or Stephen Ripley, Center for Biologics
Evaluation and Research, Food and Drug Administration, 10903 New
Hampshire Ave., Bldg. 71, Rm. 7301, Silver Spring, MD 20993-0002, 240-
402-7911.
SUPPLEMENTARY INFORMATION:
I. Background
This guidance document describes one part of FDA's effort to create
a flexible regulatory approach to the oversight of genetic and genomic-
based tests. FDA held three workshops on this issue: ``Use of Databases
for Establishing the Clinical Relevance of Human Genetic Variants'' on
November 13, 2015, ``Patient and Medical Professional Perspectives on
the Return of Genetic Test Results'' on March 2, 2016, and ``Adapting
Regulatory Oversight of Next Generation Sequencing-Based Tests'' on
September 23, 2016. The goal of this effort is to help ensure patients
receive accurate and meaningful results, while promoting innovation in
test development. This guidance document describes how publicly
accessible databases of human genetic variants can serve as sources of
valid scientific evidence to support the clinical validity of genotype-
phenotype relationships in FDA's regulatory review of genetic and
genomic-based tests. FDA is also issuing a guidance entitled
``Considerations for Design, Development, and Analytical Validation of
Next Generation Sequencing (NGS)-Based In Vitro Diagnostics (IVDs)
Intended to Aid in the Diagnosis of Suspected Germline Diseases--
Guidance for Stakeholders and Food and Drug Administration Staff,''
which is being released concurrently elsewhere in this issue of the
Federal Register.
NGS can enable rapid, broad, and deep sequencing of a portion of a
gene, entire exome(s), or a whole genome and may be used clinically for
a variety of diagnostic purposes, including risk prediction, diagnosis,
and treatment selection for a disease or condition. The rapid adoption
of NGS-based tests in both research and clinical practice is leading to
identification of an increasing number of genetic variants (e.g.,
pathogenic, benign, and of unknown significance), including rare
variants that may be unique to a single individual or family. This
guidance document describes FDA's considerations in determining whether
a genetic variant database is a source of valid scientific evidence
that could support the clinical validity of genetic and genomic based
tests. This guidance further outlines the process by which
administrators of genetic variant databases could voluntarily apply to
FDA for recognition, and how FDA would review such applications and
periodically reevaluate recognized databases. A draft guidance was
announced in the Federal Register on July 8, 2016 (81 FR 44611) and
made available for public comment. The comment period closed on October
6, 2016. FDA reviewed and considered all public comments received and
revised the guidance as appropriate.
II. Significance of Guidance
This guidance is being issued consistent with FDA's good guidance
practices regulation (21 CFR 10.115). The guidance represents the
current thinking of FDA on the ``Use of Public Human Genetic Variant
Databases to Support Clinical Validity for Genetic and Genomic-Based In
Vitro Diagnostics.'' It does not establish any rights for any person
and is not binding on FDA or the public. You can use an alternative
approach if it satisfies the requirements of the applicable statutes
and regulations. This guidance is not subject to Executive Order 12866.
III. Electronic Access
Persons interested in obtaining a copy of the guidance may do so by
downloading an electronic copy from the internet. A search capability
for all Center for Devices and Radiological Health guidance documents
is available at https://www.fda.gov/MedicalDevices/DeviceRegulationandGuidance/GuidanceDocuments/default.htm. This
guidance document is also available at https://www.fda.gov/BiologicsBloodVaccines/GuidanceComplianceRegulatoryInformation/default.htm or https://www.regulations.gov. Persons unable to download
an electronic copy of ``Use of Public Human Genetic Variant Databases
to Support Clinical Validity for Genetic and Genomic-Based In Vitro
Diagnostics; Guidance for Stakeholders and Food and Drug Administration
Staff'' may send an email request to [email protected] to
receive an electronic copy of the document. Please use the document
number 16008 to identify the guidance you are requesting.
IV. Paperwork Reduction Act of 1995
This guidance refers to previously approved collections of
information. These collections of information are subject to review by
the Office of Management and Budget (OMB) under the Paperwork Reduction
Act of 1995 (44 U.S.C. 3501-3520). The collections of information in
the guidance document ``Use of Public Human Genetic Variant Databases
to Support Clinical Validity for Genetic and Genomic-Based In Vitro
Diagnostics; Guidance for Stakeholders and Food and Drug Administration
Staff'' have been approved under OMB control number 0910-0850. The
collections of information in the guidance document ``Requests for
Feedback on Medical Device Submissions: The Pre-Submission Program and
Meetings with Food and Drug Administration Staff; Guidance for Industry
and Food and Drug Administration Staff'' have been approved under OMB
control number 0910-0756. The collections of information regarding
premarket submissions have been approved as follows: The collections of
information in 21 CFR part 807, subpart E, have been approved under OMB
control number
[[Page 16112]]
0910-0120 and the collections of information in 21 CFR part 814,
subparts A through E, have been approved under OMB control number 0910-
0231.
Dated: April 9, 2018.
Leslie Kux,
Associate Commissioner for Policy.
[FR Doc. 2018-07686 Filed 4-12-18; 8:45 am]
BILLING CODE 4164-01-P
