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Introduction
The use of Genome Wide Association Studies for detecting many
diseases of forensic interest and traits for sex distributions are due
to sex associated variations in prevalence.
1
Genome Wide Genotypic
Data from a person for the purpose of utilizing it for forensic sampling
in Genome Wide Association Studies. This research further evaluates
the actions taken by the authorities in USA to inhibit public access
to Genome Wide Data dispersion but however, limitations have
been observed to restrict sensitive information and also the use of
genotype frequency data from each of the previous study which have
been published using funding from public services agencies like
National Institute of Health (NIH) and Welcome Trust. Reactions
to this implication in the public sector has been not so encouraging
when authorities consider it too late and too little that has been
done in maintaining privacy for individuals. However, the response
from responsible persons in genetic feld of experimentation models
declared the breaching of public data as a high level beaurocratic
response to a minimum risk which can unnecessarily inhibit the
futuristic scientifc research.
2
Other scientifc concerns were also been
highlighted concerning to situations when an individual’s identity is
accurately determined by applying Genome Wide Association Studies
datasets. Several other researchers have also signifed that misuse of an
identifcation of an individual along with familial and medical history
records and if genetics will not held these sensitive data information
it will backfre to their own capabilities to carry further sequence of
research network. Church notifed that appropriateness of measures in
restricting access to information is likely to exclude the scientists who
are specialist in handling sophisticated data.
3
The active researchers
in the feld of genomic wide studies further argue that consent for
complete disclosure for releasing genomic information should be
taken from the respondents rather than making this procedure diffcult
to access for promises for anonymity.
In similar context, Martin and Bobrow compared and contrasted
the related potential risks and advantages in execution, hence proposed
four stepped representation:
a. For current scenarios limited access to personal genetic
information need to be implemented.
b. Declaration of any activity that comes under the category
of illegalarity need to be banned or be termed as malicious
practice.
c. Increase in the level of knowledge for the general public to
identify the nature of their personal information that can be
misused for purposes harmful for them in physical, social or
fnancial frameworks.
d. Encouragement for appropriate recognition need to be
stimulated in order to understand the professional relationship
between the genetic researchers and the study participants.
The sex and ancestry related data and genetic information are
important components for Quantity Check (QC) in GWAS and can
be implemented in practice to remove misidentifcations of samples
and stratifcations in population samples. The approach to identify the
mis-identifcation in processes where strong associations are detected
between genotype and phenotype characteristics can be inferred if the
observed phenotype is expected to be caused by the observed genotype
for every subject within the study.
4
The study of genomic and associated
genetic markers requires the step wise following of techniques like
frstly, a set of information about genotype and phenotype relationship
need to be established and identifed.
2
Secondly, phenotypes need to
be ascertained at additional cost before the initiation of study, possibly
for reasons of extracting usual phenotype data during the collection
method. Thirdly, the modeling for the mixture sample that is under
consideration for estimating phenotype and genotype relationship
J Investig Genomics. 2018;5(1):15‒17. 15
© 2018 Khatoon et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which
permits unrestricted use, distribution, and build upon your work non-commercially.
Human genetic association studies: genomic
association data and its discloser for public access,
barrier to human privacy and protection
Volume 5 Issue 1 - 2018
Fahmida Khatoon,
1
Farhan Essa Abdullah,
2
Zahid Balouch
3
1
Department of Biochemistry, Faculty of Medicine, United
Medical College, Pakistan
2
Professor & CEO, Department of Microbiology, Dr. Essa
laboratory and Diagnostic Centre, Pakistan
3
Assistant Professor, United Medical College, Pakistan
Correspondence: Fahmida Khatoon MBBS, MPhil, Associate
Professor, Department of Biochemistry, United Medical College,
Pakistan, Tel 509720781,
Email fahmida.khatoon@yahoo.com, drfahmida1@gmail.com
Received: December 22, 2017 | Published: February 02, 2018
Abstract
The achievements of Human Genome Project and subsequent advancements in Genotyping
have led to an infux of exciting new developments in genetics. Technology has provided
scientists with a comprehensive data on human genomes as human genome is now capable
to incite in depth and precise data information that allows access to detailed DNA sequences
in order to analyze clinical questions. The methods employed have been optimized to
examine the application of Genome Wide Association Studies with population based
forensic investigations. Genome Wide Association Studies associated approaches have also
been incorporated in routine clinical practice.
Keywords: human genome project, genome wide association studies, genome, gene,
research design
Journal of Investigative Genomics
Mini Review
Open Access