Brent Jacobson
Biology Lab
Article Reflection Paper
Personal Genome Sequencing
Scientists are working on finding better, faster ways to do personal genome sequencing.
A personal genome is a person’s library of genetic information. This information can be
determined through personal genome sequencing; however, the processes currently used can
take a long time and be very costly. Currently, “sequencing a human genome typically refers to
generating extensive sequence information using high-throughput DNA sequencing methods
and relating this information to a reference haploid genome sequence to identify variations”
(Snyder, et all, 2010). There are many different methods being used for personal genome
sequencing, each with advantages and disadvantages.
The different methods currently used to do personal genome sequencing are not
perfect. Each method has positive and negative aspects. There are currently 14 different
methods being used and in many cases, combinations of these methods are used.
Combinations of different methods are used to help improve accuracy and to provide more
information. One inhibiting factor of some of the methods and of combining methods is the
cost associated with doing the work. Another challenge with all of the methods (which is one of
the reasons multiple methods are used in combination with one another) is the limitations each
method has. Each method provides information that helps determine the genome sequence,
but each method provides different parts of the sequence, with much of the same information
overlapping.
Future sequencing may be done differently than today’s sequencing. Ideally, scientists
will learn which combinations of methods produce the most accurate results. Additionally, as
newer technology becomes available, new methods will be incorporated into the work of
genome sequencing. Finding the right combinations of methods can also help reduce the cost
of personal genome sequencing, but more studies are needed to learn which combinations of
methods produce the best results at the lowest price.
This study of personal genome sequencing methods and technologies was performed to
analyze the systems currently used. The authors also want to see improvements in processes
used for personal genome sequencing. In doing their review of systems currently used, the
authors learned that none of the systems currently used are perfect. They also learned that
more studies need to be done to further analyze the systems used to help find more accurate
and more economical systems for personal genome sequencing.
Personal genome sequences can provide valuable information to science professionals
and to the owners of the genome sequences. For instance, the information can be used to help
predict disease. As personal genome sequencing becomes more economical, more of this work
can be done to develop larger databases of genome sequence information. With larger
databases scientists can gain more knowledge about genome sequencing and the effects on a
person or population. Additionally, medical care may be improved as a result of this
information.
There may be a day when the average person has his or her personal genome
sequencing in his or her possession. The information may be used for good or even for
entertainment. One potential hazard of this information being readily available is privacy.
Another potential problem is discrimination. Health care insurance companies would likely
want to use this information to help determine insurance rates.
In conclusion, this study was fairly comprehensive, but did not define solutions that will
help reduce the costs and improve the accuracy of personal genome sequencing. As the
authors stated, more studies will need to be done to determine how to improve personal
genome sequencing. The information that comes from personal genome sequencing can be
very valuable to individuals and to populations, but the high costs of doing the work are
preventing much progress in this field. Hopefully better systems will be developed that will
allow future advances in this field.
References
Snyder, Michael, Du, Jiang, Gerstein, Mark, Personal genome sequencing: current approaches
and challenges, Genes & Development 24:423-431, Cold Spring Harbor Laboratory Press,
2010.