Cracking Your Genetic Code Movie Worksheet
What will it mean when most of us can afford to have the information in our DNA—all six billion chemical letters of it—read, stored and available for analysis?
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Cracking the Maya Code NOVA Activity Calendar Count ..
NOVA: Cracking Your Genetic CodeNOVA: Cracking Your Genetic Code (2012)This documentary explores the promise and the challenges of the new age of personal genomics,from genetic surveys offered by direct-to-consumer companies like 23andMe to full genome sequencing.The documentary asks us to image how the world will be different once whole genome sequencingis available at $1000 or less and becomes routine. How will this shift the field of medicinefrom expensive treatment of end-stage disease to prevention? What are the current successes andfailures? What are the ethical, legal, and social implications of widespread whole-genome sequencing?We see whole-genome sequencing applied to a series of medical cases. Noah and Alexis Beeryare twins.
They were initially diagnosed with cerebral palsy, but actually turned out to havea two inherited disorders that are treatable with drugs, a result revealed by whole-genome sequencing.Joe Beery, their father, says that whole-genome sequencing saved their lives.Andrew Schmitz, 5 years old, is not so lucky. He has had repeated viral infections, strokes,and brain surgery, yet despite whole-genome sequencing, scientists working with Dr. Howard Jacobare still looking for the responsible gene.
Nicholas Volker, another of Jacob's young patients,is more fortunate: whole-genome sequencing revealed a novel mutation in XIAP. He wascompletely cured of an immune system disorder by a transplant.We meet two cystic fibrosis patients. Michael McCarrick, 27, has severe lung damage. PaulGlynn, who is much younger, spends part of every fall in the hospital. Both have mutations thatwill respond to Kalydeco, a drug developed by Vertex Pharmaceuticals that restores the functionof the protein defective in cystic fibrosis for patients with a specific allele.
Michael McCarrickexperiences some improvement, but his lungs are already too severely damaged, and he dieswhile awaiting a lung transplant. Paul Glynn improves enough to make the local football team.We see progress in the biggest genetic disease of them all, cancer. Tom Garpestad, 50,was diagnosed with metastatic melanoma and given a month or two to live. Whole-genome sequencingof his tumors revealed that they carried a BRAF mutation, which made them highly responsiveto an anti-BRAF drug which, unlike chemotherapy, had no side effects. His tumors shrank dramatically,but some returned. A second gene-specific drug has had limited success, but Tom is gratefulfor the eight months of normal life that he gained from the therapy.The results of whole-genome sequencing are highly beneficial if they reveal a defect thatis treatable. There is a list of about 200 'actionable genes.'
What about the others? We meetKatie Moser, a volunteer for the Huntington's Disease Society. Huntington's Disease is a dominantgenetic disorder that produces symptoms of neurological degeneration, typically in the fifth decade.We see Katie Moser assisting Meghan Sullivan, who developed symptoms of Huntington's diseasewhile a sophomore in college. Katie Moser has a family history of the disease, and wanted to betested so that she could plan her life. She learned that she will eventually develop Huntington'sdisease. The knowledge has had repercussions: dates disappear, and she has family memberswho no longer speak to her, because they must now confront their own genetic status.Journalist Catherine Elton raises the ethical problem of the burden of knowing.
She was atrisk for inheriting an allele of BRCA1 that would put her at high risk for developingbreast and ovarian cancer, but at 27, did not want the knowledge to influence her life decisions.She refused genetic testing. She married and started a family, but developed breast cancerduring her second pregnancy. Fastdroid vnc server apk windows 10. She remains convinced that she did the right thing.These stories are interlaced with experts in genomics explaining the basics of genetics,genomics, SNP typing, and whole-genome sequencing. Experts in bioethics raise important questions.We are asked to imagine a future four or five years from now where our tablet computers woulddisplay a easily-interpreted guide to our risks for many diseases, allowing us to engage inpreventative medicine. We are also asked to imagine how our potential mates, employers, andinsurance companies might use or misuse this information.It is hard to imagine how a documentary of this length could possibly cover the essentialmaterial while remaining clear and interesting, but this film really delivers. The additionalmaterial presented on the website is a valuable addition for people who want to know more.Biology ContentThe biology content in this documentary is outstanding. We learn the basics of genomicsfrom:.
Francis Collins, Director of the National Institutes of Health and the leader of theteam that discovered the mutation responsible for cystic fibrosis. Eric Lander, Broad Institute. Howard Jacob, Medical College of Wisconsin.
Nathanial Pearson, Knome. Anne Wojcicki, 23andMe.
Jonathan Rothberg, inventor of next-generation sequencing. Leroy Hood, Institute for Systems Biology. Frederick Van Goor, Vertex Pharmaceuticals. Todd Golub, Broad InstituteThis documentary packs the basic biology into a remarkably short film. We learn that thegenome is a big place, that DNA encodes proteins, that variations in DNA sequence causes changesin protein sequence that affect protein function and create disease states.
We learn that alteredproteins associated with disease states can be targeted by highly specific drugs.Perhaps more importantly, we understand that this science is still in its infancy. The list of'actionable genes' is remarkably short (200 genes), but we also hear the point of view thatany answer, including one that is not currently actionable, might represent progress.
Severalscientists acknowledge that the science is still in its infancy, but express great hope for the future.Perhaps this is best illustrated by a conversation with Francis Collins, who knows the current stateof genomic knowledge as well as anyone. Collins expressed reservations about the utility ofpersonal genotyping, but submitted samples to three genotyping companies anyway. All threeagreed Collins was at a substantially increased risk for getting type 2 diabetes. He beganworking out regularly and lost 27 pounds. For some other conditions, the three differentcompanies disagreed on his risk level.We also learn that genes interact with each other and with the environment.
Severalscientists caution us against genetic determinism. We see a clip from Gattaca inwhich a geneticist presents a couple with embryos derived from in vitrofertilization for their approval, with many undesirable traits screened out. Many of thetraits are currently known to be complex, with many genes making small contributions andinteracting with the environment. Eric Lander points out that one of the traits likely tobe of interest to eugenicists is height, and that we know of about 180 genes affecting height,making embryo screening impractical.It is not surprising that the biology here is all accurate, given the experts who areincluded in this film. What is remarkable is that they have succeeded in conveying the senseof exploration, uncertainty, and rigor that is the essence of science in so short a film.Ethical, Legal, and Social Issues (ELSI) ContentThe ELSI content is excellent. The key questions connected with genomic medicine are raised,and different points of view are presented.
