by Lizzie Stark
geneticists had already figured out: Löwy, Preventive Strikes, 172.
She had a personal connection: Waldholz, Curing Cancer, 95; Bass, “Gene Detective.”
“I was interested in it …”: Emily Stone, “Mary-Claire King: Molecular Explorer,” Chicago Tribune, June 25, 2004.
King speculates that the public feels: Ibid.
King had a eureka moment: Waldhoz, Curing Cancer, 101–102.
“After I had accepted the job …”: Gitschier, “Evidence is Evidence.”
“In retrospect, there was something liberating …”: Wax-Thibodeaux, “Helen Hunt.”
“It wasn’t too long …”: Gitschier, “Evidence Is Evidence.”
Only a few hundred genes: Waldholz, Curing Cancer, 103. Number of human genes: David Bodine, “2012 National DNA Day Online Chatroom Transcript,” National Human Genome Research Institute, National Institutes of Health, accessed March 10, 2014, www.genome.gov/DNADay/q.cfm?aid=2&year=2012; Douglas Main, “Humans May Have Fewer Genes Than Worms,” Popular Science, January 3, 2014, accessed March 10, 2014.
she needed a bunch of huge cancer families: Waldholz, Curing Cancer, 107.
King’s interview was rebroadcast: Gitschier, “Evidence Is Evidence.”
King used some of the sequencing: Waldholz, Curing Cancer, 107.
If her lab could identify a good marker: Waldholz, Curing Cancer, 107–109.
Eventually, she and her team: J. M. Hall, et al., “Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21,” Science 250 (December 21, 1990): 1684–89.
“of course everything was done by hand …”: Gitschier, “Evidence Is Evidence.”
And as many as one in two hundred women: Waldholz, Curing Cancer, 46–47.
“I presented our data …”: Gitschier, “Evidence Is Evidence.”
“He presented what I interpreted …”: Ibid.
Lenoir had confirmed her results: Waldholz, Curing Cancer, 55.
King’s news fired off: Ibid., 93.
Later, in her 2014 piece: Mary-Claire King. “ ‘The Race’ to Clone BRCA1,” Science, vol. 343 no. 6178, March 24, 2014: 1462–1465.
King’s results were astonishing: Ibid., 46; Davies and White, Breakthrough, 132.
“If you consider human DNA …”: Waldholz, Curing Cancer, 60–61.
the Human Genome Project had just begun: King, “ ‘The Race’ to Clone BRCA1,” 1462.
Mark Skolnick’s lab in Utah: Ibid., 115; Davies and White, Breakthrough, 182–83.
The Mormon family trees: Tim B. Heaton, “Vital Statistics,” Encyclopedia of Mormonism, Harold B. Lee Library, Brigham Young University, accessed March 13, 2014, http://eom.byu.edu/index.php/Vital_Statistics.
“Discovering that you’re related …”: “Family History,” Church of Jesus Christ of Latter-Day Saints, accessed March 13, 2014, http://mormon.org/values/family-history.
tracing family trees is a holy mission: Ibid.
The potential juxtaposition: Davies and White, Breakthrough, 185–86.
He decided to investigate: Ibid., 186; Waldholz, Curing Cancer, 118–19.
his team spent the next five years: Davies and White, Breakthrough, 187.
As Skolnick identified possible cancer families: Ibid.
Skolnick went after a simpler hereditary disease: Ibid., 188.
He focused on hemochromatosis: Waldholz, Curing Cancer, 122–23.
Researchers already knew it was hereditary: Davies and White, Breakthrough, 189.
Building on French research: Ibid., 190.
The discovery of RFLPs: Waldholz, Curing Cancer 127–30.
Mark Skolnick joined forces: Mark Skolnick, “Why He Formed Myriad,” video, DNA Learning Center, accessed March 13, 2014, www.dnalc.org/view/15244-Why-he-formed-Myriad-Mark-Skolnick.html.
“I was also keenly aware …”: “Declaration of Mark Skolnick,” AMP et al. v. Myriad Genetics, United States District Court for the Southern District of New York, No. 09 Civ. 4515, December 23, 2009, 5; Waldholz, Curing Cancer, 226.
If Skolnick couldn’t get the money: “Declaration of Mark Skolnick,” 6; Waldholz, Curing Cancer, 226.
“We were acutely aware …”: “Declaration of Mark Skolnick.”
“People ask me how I felt”: Waldholz, Curing Cancer, 231.
A 1994 New York Times article: Natalie Angier, “Fierce Competition Marked Fervid Race for Cancer Gene,” New York Times, September 20, 1994, C1.
Later, she would tell the Lancet: Geoff Watts, “Mary-Claire King: Taking Genes beyond the Lab,” Lancet 382, no. 9887 (July 2013): 119, www.thelancet.com/journals/lancet/article/PIIS0140-6736(13)61551-2/fulltext.
With its commercial motives, Myriad: Associated Press, “Dispute Arises over Patent for a Gene: U.S. Seeking Role in Cancer Therapies,” New York Times, October 30, 1994, 32.
Though the patent disputes over BRCA: E. Richard Gold and Julia Carbone, “Myriad Genetics: In the Eye of the Policy Storm,” supplement, Genetics in Medicine 12, no. 4 (April 2010): S39–70.
Stratton’s group published their results: Gina Kolata, “Scientists Speedily Locate a Gene That Causes Breast Cancer; Better Screening Is Seen,” New York Times, December 21, 1995, B18.
The day before Stratton’s group’s paper: Associated Press, “Second Breast Cancer Gene Identified,” Washington Post, December 21, 1995, A24; “Myriad Files Patent for a Second Gene Causing Breast Cancer,” Wall Street Journal, December 21, 1995, B8.
The company would publish: S. V. Tavtigian, et al., “The BRCA2 Gene and Mutations in 13q-Linked Kindreds,” Nature Genetics 12 (1996): 1–6.
there is still plenty to learn: “Genetic Testing,” Facing Our Risk of Cancer Empowered (FORCE), accessed March 10, 2014, www.facingourrisk.org/info_research/hereditary-cancer/genetic-testing/index.php?PHPSESSID=6ec891ded9cddf8cfcb757d419758706; “Inherited Risk for Breast and Ovarian Cancers,” Memorial Sloan Kettering Cancer Center, accessed March 10, 2014, www.mskcc.org/cancer-care/hereditary-genetics/inherited-risk-breast-ovarian.
Chapter 4: Myriad’s Monopoly
pay Myriad Genetics: Test cost: David B. Agus, “The Outrageous Cost of a Gene Test,” New York Times, May 20, 2013, A25; Andre Pollack, “A Genetic Test That Very Few Need, Marketed to the Masses,” New York Times, September 11, 2007.
The courts have interpreted patent law: “General Information Concerning Patents,” United States Patent and Trademark Office, Department of Commerce, November 2011, accessed March 13, 2014, www.uspto.gov/patents/resources/general_info_concerning_patents.jsp.
inventors earn the right: Ibid.
help identify remains from the World Trade Center: Andrew Pollack, “Business; Identifying the Dead, 2,000 Miles Away,” New York Times, September 30, 2001.
“There’s no controversial patent …”: Joanna Rudnick, In the Family, film, directed by Joanna Rudnick (Chicago: Kartemquin Films, 2008). They noted that Myriad sent cease-and-desist: Ass’n for Molecular Pathology v. U.S. Patent and Trademark Office, No. 09 Civ. 4515, slip op. at 59–63 (S.D.N.Y. March 29, 2010).
Attorneys for Myriad would cite: Molecular Pathology, No. 09 Civ. 4515, slip op. at 76–77.
Myriad didn’t permit researchers: Molecular Pathology, No. 09 Civ. 4515, slip op. at 72.
Myriad’s foes also argued: Molecular Pathology, No. 09 Civ. 4515, slip op. at 65–66.
Myriad argued that it permitted some labs: Molecular Pathology, No. 09 Civ. 4515, slip op. at 67–68.
850 VUSs from twenty-one thousand patients: Molecular Pathology, No. 09 Civ. 4515, slip op. at 65–66.
Similarly, the plaintiffs argued that Myriad’s monopoly: Molecular Pathology, No. 09 Civ. 4515, slip op. at 56–59.
free testing to uninsured patients: “Responsibility,” Myriad Genetics, accessed March 13, 2014, www.myriad.com/responsibility/.
A 2014 opinion by a judge in another legal matter: Robert J. Shelby, “Memorandum Decision and Order Denying Plaintiff’s Motion for Preliminary Injunction.” University of Utah Research Foundati
on, et al. vs. Ambry Genetics Corporation. 2:13-CV-00640-RJS. U.S. District Court, Utah, Central Division. March 10, 2014, 2; Myriad Genetics Inc., “Written Comments on Genetic Diagnostic Testing Study Before United States Patent and Trademark Office (USPTO),” March 26, 2012, 21.
In the time it takes for a patent case to settle: Daniel J. Kevles, “Can They Patent Your Genes?,” New York Review of Books, March 7, 2013. The suit was first filed in 2009.
Myriad’s brief argued that “the established rule …”: Gregory A. Castanias, “Brief for Respondents,” AMP et al., v. Myriad Genetics et al., No. 12–398, March 7, 2013, 32. Parke-Davis & Co. v. H. K. Mulford Co.: Parke-Davis & Co. v. H. K. Mulford Co., 189 F. 95 (C.C.S.D.N.Y. 1911).
If you extract the molecule: Castanias, “Brief for Respondents,” 23–29, 35–45.
Similarly, the brief argues, “Without Myriad’s work …”: Ibid., 35.
They also cited the American Fruit Growers: Ibid., 29.
So too, they argued, isolating a segment: Ibid., 30.
They cited the Gen. Elec. Co. v. De Forest Radio Co.: Ibid., 38–39.
“Myriad did not invent …”: Ibid., 39.
The Justice Department argued that cDNA: Ibid., 19.
By early 2014 half a dozen companies: Kevin E. Noonan, “Preliminary Injunction in Myriad v. Ambry and Gene-by-Gene: Myriad replies,” Patent Docs, October 9, 2013, www.patentdocs.org/2013/10/preliminary-injunction-in-myriad-v-ambry-and-gene-by-gene-myriad-replies.html; Personal interview with Robert Cook-Deegan.
In March 2014, a judge shot down: Robert J. Shelby, “Memorandum Decision and Order Denying Plaintiff’s Motion for Preliminary Injunction.”
Chapter 5: Positive
The project, begun in 1990: “Human Genome Project,” National Institutes of Health, accessed March 7, 2014, www.report.nih.gov/NIHfactsheets/ViewFactSheet.aspx?csid=45&key=H#H; “Human Genome Project,” Human Genome Project Information Archive 1990–2003, accessed March 13, 2014, www.ornl.gov/sci/techresources/Human_Genome/home.shtml.
“At one time, such medical clairvoyance …”: “Health Insurance in the Age of Genetics,” National Human Genome Research Institute, National Institutes of Health, July 1997, accessed March 13, 2014, www.genome.gov/10000879.
“We can now only barely imagine”: William Jefferson Clinton, “President Clinton’s Comments on the Signing of Executive Order 13145,” National Human Genome Research Institute, National Institutes of Health, February 8, 2000, accessed March 13, 2014, www.genome.gov/10002346.
The head of the National Human Genome Research Institute: Francis Collins, “Director of NHGRI Applauds President Clinton’s Action to Protect Federal Workers from Genetic Discrimination,” National Human Genome Research Institute, National Institutes of Health, February 2000, accessed March 13, 2014, www.genome.gov/10002345.
As early as 1993, an NIH report: “Genetic Information and Health Insurance Report of the Task Force on Genetic Information and Insurance,” NIH-DOE Working Group on Ethical, Legal and Social Implications of Human Genome Research, May 10, 1993, www.genome.gov/10001750.
The Department of Labor report: “Genetic Information and the Workplace,” Department of Labor, Department of Health and Human Services, Equal Employment Opportunity Commission, Department of Justice, January 20, 1998, www.dol.gov/dol/aboutdol/history/herman/reports/genetics.htm.
In 1998, some employees of Lawrence Berkeley Laboratory: Norman Bloodsaw v. Lawrence Berkeley Laboratory, No. 96–16526, Court of Appeals, Ninth Circuit, June 10, 1997.
The US Equal Employment Opportunity Commission: Andrew Plemmons Pratt, “Data Bank: Consumer Genetic Testing and Cases of Genetic Discrimination,” Science Progress, March 2, 2009, accessed March 13, 2014; http://scienceprogress.org/2009/03/databank-gina/; “EEOC Settles ADA Suit Against BNSF for Genetic Bias,” press release, U.S. Equal Employment Opportunity Commission, April 18, 2001, accessed March 13, 2014, www.eeoc.gov/eeoc/newsroom/release/4-18-01.cfm.
The lawsuit settled: “EEOC Settles ADA Suit.”
Legislators acted because the public feared: Francis Collins, “Statement of Francis Collins on President Clinton’s Announcement to End Genetic Discrimination in Health Insurance,” National Human Genome Research Institute, National Institutes of Health, July 1997, accessed March 13, 2014, www.genome.gov/10000882. A study in 2000 found that 68 percent of genetic counselors themselves “would not bill their insurance companies for genetic testing because of fear of discrimination.” E. T. Matloff, et al., “What Would You Do? Specialists’ Perspectives on Cancer Genetic Testing, Prophylactic Surgery, and Insurance Discrimination,” Journal of Clinical Oncology 18, no. 12 (June 2000): 2482–92; Committee on Health, Education, and Pensions, Report on Genetic Information Nondiscrimination Act of 2007. 110th Congress S. Rep. 110–48, 110th Cong., 1st Sess., at 1-2, 5-7 (April 10. 2007).
In 1971, President Nixon dedicated $10 million: Richard Nixon, “Statement on Signing the National Sickle Cell Anemia Control Act,” May 16, 1972, American Presidency Project, www.presidency.ucsb.edu/ws/?pid=3413.
But in the wake of the funding increase: K. G. Fulda and K. Lykens, “Ethical Issues in Predictive Genetic Testing: A Public Health Perspective,” Journal of Medical Ethics 32, no. 3 (March 2006): 143–47.
Legislators recognized that genetic discrimination: Committee on Health, Education, and Pensions, Report on Genetic Information Nondiscrimination Act of 2007.
As journalist Jeff Wheelwright writes: Jeff Wheelwright, The Wandering Gene and the Indian Princess: Race, Religion, and DNA (New York: W.W. Norton and Company, 2012), 152; Karen H. Rothenberg and Amy B. Rutkin, “Toward a Framework of Mutualism: The Jewish Community in Genetics Research,” Community Genetics, 1 (1998): 148–153.
Federal laws against genetic discrimination: “Genetic Discrimination,” Genetics and Public Policy Center, accessed April 18, 2014, www.dnapolicy.org/gina/gina.history.html.
The new law became effective in 2009: Genetic Information Nondiscrimination Act of 2008, Pub. L. No. 110–233 (2008). www.gpo.gov/fdsys/pkg/PLAW-110publ233/html/PLAW-110publ233.htm.
Still, GINA does not cover: David Shultz, “It’s Legal for Some Insurers to Discriminate Based on Genes,” National Public Radio, January 17, 2013, accessed April 16, 2014, www.npr.org/blogs/health/2013/01/17/169634045/some-types-of-insurance-can-discriminate-based-on-genes.
Over the course of four years: “Genetic Information Non-Discrimination Act Charges FY 2010–2013,” U.S. Equal Opportunity Commission, accessed March 13, 2014, www.eeoc.gov/eeoc/statistics/enforcement/genetic.cfm; “U.S. and World Population Clock,” United States Census Bureau, accessed March 13, 2014, www.census.gov/popclock/.
Chapter 6: Watchful Waiting
I’d even heard horror stories: As the chief medical officer for the America Cancer Society reminds me, this lack of knowledge on the part of medical professionals, while frustrating and possibly life-threatening for some women, may be understandable, as “if you are a forty-five-year-old physician, this whole BRCA thing came about after you finished your residency.”
According to the National Comprehensive Cancer Network: Mary B. Daly, et al., “Genetic/Familial High-Risk Assessment: Breast and Ovarian,” (NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines ®), version 1.2014), National Comprehensive Cancer Network, accessed March 7, 2014, HBOC-A. www.nccn.org/professionals/physician_gls/pdf/genetics_screening.pdf.
Currently scientists are studying screening: “Screening and Testing to Detect Cancer,” National Cancer Institute, National Institutes of Health, accessed March 13, 2014, www.cancer.gov/cancertopics/screening.
You can think of cancer screening like a net: Adapted from Mukherjee, Emperor of All Maladies, 291–94.
Siddhartha Mukherjee explains the complications: Mukherjee, Emperor of All Maladies, 292–93.
It used to be the leading cause: “Cervical Cancer Statistics,” Centers for Disease Control and Prevention, December 20, 2012, accessed March 13, 2014, www.cdc.gov/cancer/cervical/statistics/; “Unit
ed States Cancer Statistics: 2006–2010 Top Ten Cancers,” U.S. Cancer Statistics Working Group, United Cancer Statistics: 1999–2010 Incidence and Mortality Web-based Report (Atlanta: U.S. Department of Health and Human Services, Centers for Disease Control and Prevention and National Cancer Institute, 2013), accessed March 13, 2014, http://apps.nccd.cdc.gov/uscs/toptencancers.aspx.
“His wife Maria, in surely one …”: Mukherjee, Emperor of All Maladies, 286–87.
Papanicolaou began reading slides: Mukherjee, Emperor of All Maladies, 287–89; Löwy, Preventive Strikes, 89.
The Pap smear meant doctors: Mukherjee, Emperor of All Maladies, 289–90.
As Ilana Löwy, a senior researcher: Löwy, Preventive Strikes, 96, 128–129, 140–141; Robert A. Aronowitz, Unnatural History: Breast Cancer and American Society (New York: Cambridge University Press, 2007) 219–20; “Cervical Dysplasia,” Medline Plus, National Library of Medicine, National Institutes of Health, updated February 8, 2013, accessed March 13, 2014, www.nlm.nih.gov/medlineplus/ency/article/001491.htm.
The Pap smear’s success: Aronowitz, Unnatural History, 221.
Nonetheless, the same logic: Löwy, Preventive Strikes, 143; Aronowitz, Unnatural History, 220–21.
Berlin surgeon Albert Salomon: Mukherjee, Emperor of All Maladies, 290.
The method didn’t resurface: Aronowitz, Unnatural History, 223.
A 1963 study of eighty thousand: Mukherjee, Emperor of All Maladies, 297.
Mukherjee called the Edinburgh study: Mukherjee, Emperor of All Maladies, 298.
“This pattern—a clearly discernible benefit …”: Mukherjee, Emperor of All Maladies, 300–1.
a paper in the Journal of the National Cancer Institute: “Mammography Screening Shows Limited Effect on Breast Cancer Mortality in Sweden,” Science Daily, July 17, 2012, accessed March 13, 2014, www.sciencedaily.com/releases/2012/07/120717162629.htm.