Human Genes The Human Genome Project

Learning Outcomes

1.  To understand what a genome is and its importance 2.  To trace the history of the Human Genome Project and

understand the driving forces behind its establishment and completion

3.  To evaluate the ethical, legal and social implications of utilizing human genetic sequences

Learning Outcome #1

To understand what a genome is and its importance

The Genome

Learning Outcome #2

To trace the history of the Human Genome Project and understand the driving forces behind its establishment and completion

The Holy Grail

A n i n t e r n a t i o n a l , co l labora t ive research program whose goal was the complete mapping and understanding of all the genes of human beings.

The Secret Of Our Lives http://youtu.be/nhoEvAY0ToM

How It All Began

Game Changer

1985, Robert Sinsheimer

“I have to say when we started out I think most of the people were pretty skeptical, if not downright dubious… But after we did talk about it and we thought about what might be done to improve the technology to make this possible… the project began to seem much more feasible. At least in the minds of some of us.”

Finding The Right Allies

1986 1988 1989-1992

James Watson 1994-present

Francis Collins

1989, National Center for Human Genome Research (NCHGR)

1990, Launch of HGP

1997

Walter Gilbert

Goals of the HGP

A Sequencer’s Gadgets

Sanger method 2.8 million bp

daily

capillary sequencing automated sequencing 135 thousand bp

daily

1977 1987 1995

300 bp daily

When Competition Arrives

1999, launch of Celera’s human genome sequencing

Craig Venter Gene Myer

The Race For Human Genome

Key Accomplishments

99.99% bullseye

4 yrs ahead speedy access

Your Virtual Genetic Library

Interesting Findings

•  There are approximately 20,000-25,000 genes in human beings

•  Only ~1.5% of the human genome encodes for proteins •  Different individuals are 99.9% genetically identical

Learning Outcome #3

To evaluate the ethical, legal and social implications of utilizing human genetic sequences

The Genetic Revolution

Offshoots of HGP

•  Gene hunt within days instead of years •  More than 1800 disease genes discovered •  More than 2000 genetic tests developed •  At least 350 biotech-based products in clinical trial •  Reducing the cost of sequencing an individual’s genome

to $1,000 or less

NIH, 2010

Genetics For The Pinoy

1.  Most families cannot afford out-of-pocket expenses for genetic testing and treatment

2.  Compromised access to genetic services

3.  Poor awareness among different stakeholders, i.e., health professionals and parents

4.  Lack of geneticists and genetic counselors

& Inclusion of the newborn hearing screening fee in theinsurance benefits; and

& Establishment of a Newborn Hearing Screening Refer-ence Center.

Genetic service facilities in the country and abroad

There are limited facilities in the country that providegenetic services to the public and/or private sectors, aslisted in Table 6. For tests with limited requests in thecountry, samples from patients are sent overseas for furthertesting.

Future development of medical genetic servicesin the Philippines

The future of genetic services is dependent on many factors.Limited attention is provided by government since the focusis still on eradication of infectious diseases that predominatethe top ten causes of infant mortality and infant morbidity.Learning from the developed countries where eradication ofinfections eventually paved the way to improvement ofgenetic services, the Philippines must prepare now by givingmore attention (in terms of budget and program planning) togenetic disorders.

The situation is aggravated by the lack of trained person-nel to handle the patients with genetic diseases. There areonly eight trained clinical geneticists and no geneticcounsellors.

Medical genetic services are limited to the major cities—Manila, Cebu City and Davao City. Despite the presence ofa fellowship program on Clinical Genetics, it is not a pop-ular choice and competes with other pediatric subspecialties,i.e., infectious diseases, cardiology, pulmonology, gastroen-terology, etc. The offering of a Master of Science in GeneticCounselling is a strategy to bridge the gap of clinical geneti-cists. DOH must take an active role in identifying healthpersonnel who can be trained for the clinical genetics andgenetic counselling programs to be fielded at the regionaland provincial levels.

The integration of NBS in the public health system is anopportunity for introduction of genetic services in the 17regions of the country. Currently, there are regional DOHNBS coordinators assisted by a full-time NBS nurse coor-dinators, who are also involved in other genetics-relatedactivities, such as the Birth Defects Surveillance (BDS)and the Telegenetics Referral system. The BDS is pilotedin 81 sites throughout the country and provides a templatefor reaching out to patients in remote areas (Padilla et al.2011a).

Recognizing that 50 % of the population is in the pedi-atric age group, DOH has joined hands with IHG-NIH in theestablishment of the VYLH composed of adolescents andyoung adults promoting an increased awareness among theyouth as regards healthy lifestyle and healthy pregnancies.The VYLH-Philippines is a network of leaders from differ-ent youth organizations based in universities and communi-ties in the country, and was organized with the aim ofmobilizing the youth towards health work. Currently, thenetwork is doing advocacy and promotional work in theirrespective schools and communities, focusing on (1) thesignificance of folic acid supplementation in the preventionof birth defects; (2) the promotion of newborn screening;and (3) lobbying for public support for the urgent passage ofthe Rare Disease Act (Padilla et al. 2012).

The barangay health workers, midwives and nurses re-main as front-liners in the field. To successfully bring downthe knowledge to the grassroots, this new information aboutgenetic disorders must be included in the training of thesehealth workers.

The establishment of an office for genetic diseases at theDOH may fast track the program planning for these patientsand their families.

Access to genetic services

There is a national health insurance program in the country,but there is much debate on the percentage of familiescovered as well as the percentage of health expenses cov-ered by government. In general, 48.4 % of health expendi-ture are still out-of-pocket expenses. Among the genetictests, NBS is the only one covered by the national healthinsurance. All other expenses related to treatment upondiagnosis are out-of-pocket expenses for the family.

The following are barriers to accessing genetic services inthe Philippines: (1) financial, since most families cannotafford out-of-pocket expenses for the expensive genetictesting and treatment; (2) geographical, being an archipela-go of 7,107 islands; (3) lack of awareness among differentstakeholders, i.e., health professionals and parents; (4) com-promised access to genetic services at the regional and

Table 6 Facilities pro-viding genetic servicesin the country

Laboratory/service Number

Public Private

Newborn screening 3 1

Molecular 1 2

Biochemical 1 0

Cytogenetics 2 2

DNA analysis(paternity testing)

3 1

J Community Genet (2013) 4:399–411 407

Padilla, et al. 2013. J Community Genet 4:399–411

Implications

Social Responsibility Genetic Information

Gen

etic

Res

earc

h Clinical Application

Public Awareness

Ethical, Legal and Social Implications (ELSI) Research Program

Film Reflection

Reflection homework, typewritten in short bond paper Questions: 1. The film opens with 2 opposing statements: “Consider God's handiwork; who can straighten what He hath made crooked?” – Ecclesiastes 7:13 (The Bible) “I not only think that we will tamper with Mother Nature, I think Mother Nature wants us to.” Willard Gaylin What is the relevance of these statements on the film? 2. When Jerome’s parents consulted for a second child, the geneticist stated “I have taken the liberty of eradicating any potentially prejudicial conditions - premature baldness, myopia, alcoholism and addictive susceptibility, propensity for violence and obesity.” The father then asks “We were wondering if we should leave some things to chance.” To this the geneticist responds, “You want to give your child the best possible start. Believe me, we have enough imperfection built-in already. Your child doesn't need any additional burdens.” Do you agree with the geneticist or the father? Explain. 3. Vincent commented that “it's illegal to discriminate – ‘genoism’ it's called – but no one takes the laws seriously.” What is the implication of this statement on genetic profiling, wherein an individual's DNA characteristics are determined for various purposes including medical profiling. Do you think that genetic profiling we be of more benefit or harm to the society? 4. What is the moral of the story? 5. How far do you think is the movie from our present reality? Questions adapted from: 1) Reflection questions for GATTACA by Jessica Costa; 2) http://studylib.net/doc/8731995/gattaca-reflection-questions--write-your-answers-on-a-sep...