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By Genetic Counseling Expert Witness

Genetic counseling or genetics counseling are misleading terms. How in the world can I provide counseling to your genes? I don’t; I provide counseling and medical information to people about their genes. My clients are patients at a large university medical center who seek to come to a medical decision compatible with their family’s background and values.

The genetic counseling profession started in 1971 as the first master’s degree professionals graduated from Sarah Lawrence College. The program, which incorporates medical, genetic, and psychosocial counseling courses, trains mid-level healthcare providers to provide information, support, and decision assistance to patients with a genetic disease or at risk for a genetic disease.

Genetic counselor training as is like that of nurse practitioners or physician’s assistants and they are medically licensed in 26 states.  They are prepared and equipped to order appropriate genetic tests, interpret the results and explain the results to the patient.

Expert Witness Genetic Testing

In the USA, most patients who undergo a commercial genetic test do not receive adequate pre- or post-test counseling or give their written informed consent to testing.  According to a report from Johns Hopkins University (Giardiello FM et al. The use and interpretation of commercial APC gene testing for familial adenomatous polyposis. N Engl J Med. 1997 Mar 20;336(12):823-7), only 18.6 % of patients with a family history of colon cancer received genetic counseling before the test, and only 16.9% percent provided written informed consent. Most concerning is that in 31.6% of the cases, the ordering physicians misinterpreted the genetic test results. This may lead to failure to order surgery or conversely unnecessary surgery. A survey of breast cancer surgeons found that 24% of surgeons in high volume practices and 50% in lower volume practices didn’t make treatment distinctions between patients who had known cancer-associated gene mutations and patients who didn’t. (Kurian AW et al. Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer. J Clin Oncol. 2017 Jul 10;35(20):2232-2239.)

As detailed in a recent lawsuit, a woman who had negative (normal) results on a cancer gene panel was mistakenly told by her nurse practitioner that her results were positive. Only after she had both breasts and her uterus surgically removed did she learn that her test results had been negative all along. [Cooke-Moore v. Curry Health District, 17CV46203 (2017)]. The patient sued her healthcare providers for $1.8 million and the case was settled for $600,000.

Physicians practicing today may have had one or no genetic disease training courses in medical school and they may be unprepared or underprepared for patients who have complex genetic diseases and test results. This puts the patient at risk for inadvertent harm and the physician at risk for avoidable errors and litigation.

Wrongful life, wrongful birth, medical malpractice, and wrongful termination of pregnancy lawsuits are becoming increasingly common as more genetic disease tests are more widely available and many diseases can be diagnosed before a baby is born.

One Seattle physician performed a chorionic villus sampling procedure on a pregnant woman without waiting for a pre-procedure consultation with a genetic counselor as required by his organization’s practice policies.  The patient’s baby was born with an unbalanced form of his father’s balanced chromosome translocation, which caused the baby to have multiple birth defects and intellectual disability. The wrongful life verdict awarded the family $50 million in the largest wrongful life jury verdict in Washington state history [Wuth v. Valley Medical Center, LabCorp, 359 P.3d 841 (2015)].


Genetic Testing Expert Witness

Genetic counselors are uniquely qualified, experienced, and trained to be expert medical witnesses, review medical records, and provide their opinion and impactful information concisely. Genetic counselors are accustomed to explaining complex concepts to laypeople and therefore they can provide clear explanations and expert opinion testimony.

I have been deposed twice and consulted on three “wrongful life” cases where babies were born with lethal diseases that should have been able to have been detected if all healthcare providers had followed their own established protocols and guidelines.